Genetic Causes of Rickets.

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Term Occurence Count Dictionary
rickets 48 endocrinologydiseases
calcitriol 18 endocrinologydiseasesdrugs
hyperthyroidism 1 endocrinologydiseases
pseudohypoparathyroidism 1 endocrinologydiseases
calcinosis 15 endocrinologydiseases
cholecalciferol 1 endocrinologydiseasesdrugs
hypocalcaemia 1 endocrinologydiseases
hypoparathyroidism 1 endocrinologydiseases
hypophosphatemic rickets 5 endocrinologydiseases
metabolic bone disease 2 endocrinologydiseases
osteoporosis 2 endocrinologydiseases
hypercalcemia 5 endocrinologydiseases
hyperparathyroidism 7 endocrinologydiseases
hyperphosphatemia 1 endocrinologydiseases
thyrotoxicosis 1 endocrinologydiseases
hypophosphatemia 30 endocrinologydiseases
oculocerebrorenal syndrome 1 endocrinologydiseases
secondary hyperparathyroidism 2 endocrinologydiseases
calcium chloride 1 endocrinologydiseasesdrugs
ergocalciferol 1 endocrinologydiseasesdrugs
gigantism 1 endocrinologydiseases

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Select Drug Character Offset Drug Term Instance
calcitriol 6532 25(OH)D is further hydroxylated by 1α-hydroxylase to become the biologically active hormone 1,25(OH)2D ( calcitriol ), which binds to its nuclear receptor vitamin D responsive (VDR) to regulate gene transcription through
calcitriol 10753 significantly elevated PTH levels ([20]).Proper treatment of the disease includes administration of calcitriol , 1,25-dihydroxyvitamin D3 or alfacalcidol, 1 alpha-hydroxy-vitamin D3 in physiological doses (10-20
calcitriol 15834 age. Serum levels of calcium, phosphate and ALP may gradually normalize in some pubertal cases and calcitriol /calcium treatment would be unnecessary ([39],[40],[41]). Intestinal calcium absorption has been shown
calcitriol 16427 1,25(OH)2D (300-1000 pg/mL, normal range: 15-90 pg/mL) are generally present ([4],[26]).High doses of oral calcitriol (1-6 μg/kg/day, 2 doses) and calcium (1-3 g/day elementary calcium) are the recommended treatment ([26],[39]).
calcitriol 31111 translocation [hypophosphatemia, high PTH, and normal 1,25(OH)2D7] ([87],[88]). Treatment includes calcitriol with oral phosphate supplementation.2.1.5. Other Genetic Causes2.1.5.1. Osteoglophonic DysplasiaOsteoglophonic
calcitriol 36088 of XLHR, ADHR, ARHR and other rare genetic causes of HR. It is a lifelong treatment of phosphate and calcitriol replacement to restore bone mineralization and improve skeletal deformities. Calcitriol is recommended
calcitriol 37012 growth velocity after treatment are more useful indicators in assessing treatment response. Traditional calcitriol and phosphate therapy improves bone mineralization, skeletal findings of rickets and growth rate. However,
calcitriol 38703 annually before treatment and during treatment for monitoring of skeletal findings ([5]).The dosage of calcitriol should be adjusted according to serum levels of PTH and the urine calcium/creatinine ratio. The main
calcitriol 39371 <0.28; >7 years of age, <0.21 ([28]). In the presence of hypercalciuria, it is necessary to reduce calcitriol dosage. The evening dosage of calcitriol should be higher in order to suppress increased secretion of
calcitriol 39412 the presence of hypercalciuria, it is necessary to reduce calcitriol dosage. The evening dosage of calcitriol should be higher in order to suppress increased secretion of PTH at night ([26]).There is a close relationship
calcitriol 39680 development of nephrocalcinosis ([107],[108]). The frequency of nephrocalcinosis in HR patients after calcitriol and phosphate combined therapy is between 33% and 80%, and usually occurs within the first 3-4 years
calcitriol 41207 ([26]).Short stature is one of the major findings in the diagnosis of HR patients. With appropriate calcitriol and phosphate treatment, the skeletal and biochemical findings should improve and an increase in height
calcitriol 44314 contrast to patients with XLHR, ADHR or ARHP, who are usually treated with high doses of alphacalcidol or calcitriol and multiple daily doses of oral phosphate, low-sodium diet and hydration are recommended for the disease
calcitriol 44544 The response to treatment is excellent. Phosphate treatment results in a decrease in serum levels of calcitriol and, consequently, urinary calcium excretion gradually returns to normal. The use of calcitriol is contradictory
calcitriol 44640 of calcitriol and, consequently, urinary calcium excretion gradually returns to normal. The use of calcitriol is contradictory and harmful because it can increase hypercalciuria.2.2.2. Hypophosphatemic Rickets
calcitriol 51004 respond well to oral phosphate for the treatment of hypophosphatemia. In addition, some patients may need calcitriol , but it should be carefully used as it may increase urinary calcium excretion. A sodium-restricted diet
calcitriol 52129 examining serum levels of 25(OH)2D and 1,25(OH)2D, and their responses to treatment (calcium, vitamin D or calcitriol ) (Table 1).The genetic causes of HR can be divided into two groups: FGF23-dependent and FGF23-independent
calcitriol 52661 to confirm diagnosis. The current treatment for FGF23-dependant HR is oral phosphate replacement and calcitriol which have potential treatment complications such as calciuria and nephrocalcinosis. Recent progress
calcium chloride 17693 VDDR2A without alopecia has been successfully treated with enteral administration of elemental calcium ( calcium chloride ) via gastric tube ([47]). Prolonged serum calcium deprivation might lead to secondary hyperparathyroidism
cholecalciferol 5717 major forms: ergocalciferol (vitamin D2) produced by plants in response to ultraviolet irradiation and cholecalciferol (vitamin D3) derived from animal tissues or 7-dehydrocholesterol in human skin by the action of ultraviolet
ergocalciferol 5627 ([12],[13]).Vitamin D is a group of biologically inactive, fat-soluble prohormones that exist in two major forms: ergocalciferol (vitamin D2) produced by plants in response to ultraviolet irradiation and cholecalciferol (vitamin
Select Disease Character Offset Disease Term Instance
calcinosis 11342 High-normal levels of serum calcium might lead to hypercalciuria and subsequent development of nephro calcinosis . Regular monitoring of 24-hour urinary calcium excretion and keeping the urine calcium excretion below
calcinosis 16735 regular urine calcium excretion and renal ultrasonography are suggested because of the risk of nephro calcinosis . Clinical presentation and response to treatment varies depending on the location of mutations in the
calcinosis 17501 may be associated with a number of complications such as cardiac arrhythmia, hypercalciuria, nephro calcinosis , catheter related sepsis and extravasation of calcium ([45],[46]). A case of VDDR2A without alopecia
calcinosis 36650 lead to side effects such as diarrhea, secondary hyperparathyroidism, increased FGF23 synthesis, nephro calcinosis and renal insufficiency ([105]). In addition, serum phosphate levels should not be used alone in evaluating
calcinosis 38534 ultrasonography should be performed annually, before and after treatment, to monitor the development of nephro calcinosis ([105]). Skeletal X-ray is recommended to be performed annually before treatment and during treatment
calcinosis 39599 ([26]).There is a close relationship between high dose phosphate therapy and the development of nephro calcinosis ([107],[108]). The frequency of nephrocalcinosis in HR patients after calcitriol and phosphate combined
calcinosis 39648 dose phosphate therapy and the development of nephrocalcinosis ([107],[108]). The frequency of nephro calcinosis in HR patients after calcitriol and phosphate combined therapy is between 33% and 80%, and usually occurs
calcinosis 39881 3-4 years of treatment ([105],[107],[108],[109]). However, long-term follow-up of cases with nephro calcinosis has been reported to have no significant impairment on renal function ([110]). On the other hand, long-term,
calcinosis 40398 improve rickets and patients should be monitored for the development of hyperparathyroidism and nephro calcinosis .Conventional treatment should gradually improve biochemical and skeletal abnormalities, however mild
calcinosis 43627 in the absorption of intestinal calcium, suppressed PTH and development of hypercalciuria and nephro calcinosis . Diagnosis can be made based on skeletal findings of rickets, hypophosphatemia, hypercalciuria and nephrolithiasis
calcinosis 46078 hypophosphatemia, hypercalcemia, elevated serum 1,25(OH)2D, decreased serum PTH, hypercalciuria and nephro calcinosis .The original patients with FRTS2 were adults with clinical features of increased renal phosphate and
calcinosis 46616 characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration and medullary nephro calcinosis . Laboratory findings include decreased TRP, hypophosphatemia, hypercalcemia, elevated 1,25(OH)2D, suppressed
calcinosis 46763 decreased TRP, hypophosphatemia, hypercalcemia, elevated 1,25(OH)2D, suppressed PTH, hypercalciuria, nephro calcinosis , hyperuricosuria and low-molecular-weight proteinuria ([136]).The main pathogenesis of all three diseases
calcinosis 49668 proteinuria, hypercalciuria, glycosuria, phosphaturia, aminoaciduria, uricosuria, hematuria and nephro calcinosis ([140],[141],[142]). More than 259 different CLCN5 mutations are listed in the HGMD (accessed Nov 13,
calcinosis 52745 replacement and calcitriol which have potential treatment complications such as calciuria and nephro calcinosis . Recent progress of targeted therapy against FGF23-mediated HR (NVP-BGJ398 and KRN23) has produced promising
gigantism 32675 heterogeneous and usually include hyperfunctional endocrinopathies such as thyrotoxicosis, pituitary gigantism and Cushing syndrome due to autonomous hormonal hyper-production ([90]). There is an association between
hypercalcemia 30767 deficient for α-klotho, display a phenotype comparable with human ageing and are characterized by a mild hypercalcemia , hyperphosphatemia, increased levels of serum 1,25(OH)2D, decreased PTH and bone abnormalities such
hypercalcemia 45990 appropriate elevation in serum 1,25(OH)2D. Laboratory findings include decreased TRP, hypophosphatemia, hypercalcemia , elevated serum 1,25(OH)2D, decreased serum PTH, hypercalciuria and nephrocalcinosis.The original patients
hypercalcemia 46536 aminoaciduria and tubular proteinuria without renal tubular acidosis ([135]).HCINF2 is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration and medullary nephrocalcinosis. Laboratory findings include
hypercalcemia 46689 dehydration and medullary nephrocalcinosis. Laboratory findings include decreased TRP, hypophosphatemia, hypercalcemia , elevated 1,25(OH)2D, suppressed PTH, hypercalciuria, nephrocalcinosis, hyperuricosuria and low-molecular-weight
hypercalcemia 48453 hypophosphatemia due to increased renal phosphate loss. Characteristic clinical features include hypophosphatemia, hypercalcemia , elevated serum levels of 1,25(OH)2D, hypercalciuria, decreased TRP or low TmP/GFR value and nephrolithiasis,
hyperparathyroidism 17796 (calcium chloride) via gastric tube ([47]). Prolonged serum calcium deprivation might lead to secondary hyperparathyroidism and, if not managed properly, tertiary hyperthyroidism. Cinacalcet is reported to be effective in cases
hyperparathyroidism 17945 tertiary hyperthyroidism. Cinacalcet is reported to be effective in cases with VDDR2A and tertiary hyperparathyroidism ([48],[49]).1.4. Vitamin D Dependent Rickets Type 2BVDDR2B (MIM 600785) is an unusual form of rickets
hyperparathyroidism 29743 completely understood ([82],[83],[84]).2.1.4. Hypophosphatemic Rickets with HyperparathyroidismHR with hyperparathyroidism (MIM 612089) is a very rare disease caused by a balanced translocation with breakpoints at 9q21.13 and
hyperparathyroidism 36596 giving aggressive phosphate therapy as this might lead to side effects such as diarrhea, secondary hyperparathyroidism , increased FGF23 synthesis, nephrocalcinosis and renal insufficiency ([105]). In addition, serum phosphate
hyperparathyroidism 40066 ([110]). On the other hand, long-term, high-dose phosphate therapy may result in secondary and tertiary hyperparathyroidism ([105],[111],[112],[113]). Cinacalcet can be used in the treatment of tertiary hyperparathyroidism in
hyperparathyroidism 40165 hyperparathyroidism ([105],[111],[112],[113]). Cinacalcet can be used in the treatment of tertiary hyperparathyroidism in children with HR ([111]). In brief, oral phosphate should be given at the lowest dose that is sufficient
hyperparathyroidism 40368 dose that is sufficient to improve rickets and patients should be monitored for the development of hyperparathyroidism and nephrocalcinosis.Conventional treatment should gradually improve biochemical and skeletal abnormalities,
hyperphosphatemia 30782 α-klotho, display a phenotype comparable with human ageing and are characterized by a mild hypercalcemia, hyperphosphatemia , increased levels of serum 1,25(OH)2D, decreased PTH and bone abnormalities such as increased metaphyseal
hyperthyroidism 17855 calcium deprivation might lead to secondary hyperparathyroidism and, if not managed properly, tertiary hyperthyroidism . Cinacalcet is reported to be effective in cases with VDDR2A and tertiary hyperparathyroidism ([48],[49]).1.4.
hypocalcaemia 7021 phosphate and 1,25(OH)2D itself with renal 1α-hydroxylase being stimulated by PTH, hypophosphatemia or hypocalcaemia . Alternatively, 25(OH)D and 1,25(OH)2D may be catabolized to 24,25(OH)D and 1,24,25(OH)2D, respectively,
hypoparathyroidism 33148 2017) and most of them (221 inactivating mutations) are found in patients with resistance to PTH (pseudo hypoparathyroidism or Albright hereditary osteodystrophy, which is different from the disease). In all patients reported
hypophosphatemia 7001 suppressed by calcium, phosphate and 1,25(OH)2D itself with renal 1α-hydroxylase being stimulated by PTH, hypophosphatemia or hypocalcaemia. Alternatively, 25(OH)D and 1,25(OH)2D may be catabolized to 24,25(OH)D and 1,24,25(OH)2D,
hypophosphatemia 9903 ([1],[26]).Similar to cases of nutritional rickets, typical cases with VDDR1A present with hypocalcemia, hypophosphatemia and increased serum levels of alkaline phosphatase (ALP) and PTH (Table 1). In contrast to nutritional
hypophosphatemia 12142 Nigerian siblings of two and seven years old. Skeletal deformities compatible with rickets, hypocalcemia, hypophosphatemia , markedly elevated ALP and PTH, normal 1,25(OH)2D and low 25(OH)D levels were present. These siblings
hypophosphatemia 13157 convulsion and skeletal deformities related with rickets in childhood. In all cases, hypocalcemia, hypophosphatemia , decreased 25(OH)D, markedly elevated ALP and PTH are present. Interestingly, a CYP2R1 mutation has
hypophosphatemia 16028 absorption has been shown to become less vitamin D-dependent after the end of puberty ([40]).Hypocalcemia, hypophosphatemia , increased serum levels of ALP and PTH, and normal serum levels of 25(OH)D are usually found. Hypocalcemia,
hypophosphatemia 16153 increased serum levels of ALP and PTH, and normal serum levels of 25(OH)D are usually found. Hypocalcemia, hypophosphatemia and increased PTH lead to activation of 1-alpha hydroxylase and inhibition of 24-hydroxylase. Therefore,
hypophosphatemia 19314 genetic testing ([54],[55]). It is characterized by renal phosphate wasting, leading to subsequent hypophosphatemia and bone mineralization defects such as rickets and osteomalacia. Hypophosphatemia and normal serum
hypophosphatemia 21843 levels normally vary according to age, which needs to be carefully considered when assessing whether hypophosphatemia is present or not. Normal ranges of serum phosphate are 4.8-8.2 mg/dL for 0-5 days of age, 3.8-6.5 mg/dL
hypophosphatemia 22125 2.9-5.4 mg/dL for 12-15 years of age and 2.7-4.7 mg/dL for 16-19 years of age ([27]). In addition to hypophosphatemia , decreased TRP, normal or mildly elevated serum levels of PTH and markedly elevated serum levels of
hypophosphatemia 22802 limits for TRP are generally used in daily practice ranging from 75-85%. However, in the presence of hypophosphatemia , fractional excretion of filtered phosphate should be less than 5% (TRP >95%) ([64]). The ratio of tubular
hypophosphatemia 23305 >86%: TmP/GFR= (0.3 x TRP) / [1-(0.8 x TRP)] x serum phosphateLow TmP/GFR values in the setting of hypophosphatemia points to renal phosphate wasting ([65]). The normal ranges of TmP/GFR (mg/dL) vary with age: Birth,
hypophosphatemia 26697 to proteolytic cleavage and lead to increased serum levels of FGF23 and its activity, resulting in hypophosphatemia ([61],[71],[72]). It is less common than XLHR and 16 different mutations are reported in HGMD (accessed
hypophosphatemia 27258 discovery that iron deficiency is an environmental trigger, which stimulates FGF23 expression and thus hypophosphatemia in ADHR ([75],[76],[77]).2.1.3. Autosomal Recessive Hypophosphatemic Rickets2.1.3.1. Autosomal Recessive
hypophosphatemia 28030 the HGMD (accessed Nov 13, 2017). DMP1 knockout mice have displayed increased serum levels of FGF23, hypophosphatemia , skeletal and dental anomalies and osteomalacia ([79]). Unlike other HR types, osteosclerosis in the
hypophosphatemia 28268 calvarial bones may occur ([62]). Haploinsufficiency has been reported in heterozygous carriers: mild hypophosphatemia , low TRP and focal osteomalacia, without typical skeletal deformities of rickets ([80]).2.1.3.2. Autosomal
hypophosphatemia 30168 serum α-klotho, FGF23 levels and β-glucuronidase activity ([85]). The disease is characterized by hypophosphatemia and elevated serum PTH levels, with inappropriate renal phosphate wasting ([85]). Increased levels of
hypophosphatemia 30316 with inappropriate renal phosphate wasting ([85]). Increased levels of FGF23 lead to decreased TRP, hypophosphatemia and rickets. Hyperparathyroidism due to diffuse parathyroid hyperplasia results in increased levels
hypophosphatemia 31027 and soft tissue calcifications, which are different from the phenotype caused by the translocation [ hypophosphatemia , high PTH, and normal 1,25(OH)2D7] ([87],[88]). Treatment includes calcitriol with oral phosphate supplementation.2.1.5.
hypophosphatemia 31803 and low TRP are present in some patients ([89]). Increased FGF23 leads to renal phosphate wasting, hypophosphatemia and deterioration of bone mineralization. It has been suggested that FGF23 production is stimulated
hypophosphatemia 34115 skeletal and dental tissues and is a novel FGF23 regulator ([95],[96]). Increased renal phosphate loss and hypophosphatemia due to increased serum FGF23 levels have been reported in Raine’s syndrome ([97],[98],[99]). HR has
hypophosphatemia 34388 can suppress FGF23 production by enhancing DMP1 expression and its inactivation causes FGF23-related hypophosphatemia by decreasing transcription of DMP1, resulting in increased FGF23 levels in patients with Raine’s
hypophosphatemia 43372 reabsorption in the kidney and its mutation results in increased renal phosphate loss and subsequent hypophosphatemia ([5]). FGF23 is not involved in the disease. The decrease in serum phosphate promotes biosynthesis of
hypophosphatemia 43700 of hypercalciuria and nephrocalcinosis. Diagnosis can be made based on skeletal findings of rickets, hypophosphatemia , hypercalciuria and nephrolithiasis ([124],[125]). There are 33 mutations listed in HGMD (accessed Nov
hypophosphatemia 43955 correlation has not yet been established ([125],[126],[127]). Increased renal phosphate wasting, mild hypophosphatemia , increased 1,25(OH)2D and hypercalciuria without metabolic bone disease, can be present in patients
hypophosphatemia 45820 different mutations listed in the HGMD (accessed Nov 13, 2017).Similar to HHRH, NPHLOP1 is characterized by hypophosphatemia and decreased renal phosphate absorption with an appropriate elevation in serum 1,25(OH)2D. Laboratory
hypophosphatemia 45972 absorption with an appropriate elevation in serum 1,25(OH)2D. Laboratory findings include decreased TRP, hypophosphatemia , hypercalcemia, elevated serum 1,25(OH)2D, decreased serum PTH, hypercalciuria and nephrocalcinosis.The
hypophosphatemia 46671 thrive, vomiting, dehydration and medullary nephrocalcinosis. Laboratory findings include decreased TRP, hypophosphatemia , hypercalcemia, elevated 1,25(OH)2D, suppressed PTH, hypercalciuria, nephrocalcinosis, hyperuricosuria
hypophosphatemia 48338 phosphate transport ([128],[138]). Mutations in the NHERF1 result in reduced NaPi-2a expression and hypophosphatemia due to increased renal phosphate loss. Characteristic clinical features include hypophosphatemia, hypercalcemia,
hypophosphatemia 48435 and hypophosphatemia due to increased renal phosphate loss. Characteristic clinical features include hypophosphatemia , hypercalcemia, elevated serum levels of 1,25(OH)2D, hypercalciuria, decreased TRP or low TmP/GFR value
hypophosphatemia 50950 detectable mutation ([140],[146]). Patients usually respond well to oral phosphate for the treatment of hypophosphatemia . In addition, some patients may need calcitriol, but it should be carefully used as it may increase
hypophosphatemic rickets 1140 (VDDR2B). The second group involves genetic disorders of excessive renal phosphate loss (hereditary hypophosphatemic rickets ) due to impairment in renal tubular phosphate reabsorption as a result of FGF23-related or FGF23-independent
hypophosphatemic rickets 2127 mutations either in enzymes involved in the vitamin D biosynthesis or vitamin D receptor ([4]), and hypophosphatemic rickets (HR) which is caused by impaired renal tubular phosphate reabsorption or transport due to genetic disorders
hypophosphatemic rickets 32910 bone tissue and increase in serum FGF23 level. TRP is decreased in 50% of cases ([91]). Therefore, hypophosphatemic rickets /osteomalacia can be seen in these patients. More than 250 mutations are listed in the HGMD (accessed
hypophosphatemic rickets 53288 1Laboratory characteristics of rickets associated with vitamin D metabolismTable 2Genetic causes of hypophosphatemic rickets Table 3Laboratory characteristics of genetic causes of hypophosphatemic ricketsFigure 1Near-total and
hypophosphatemic rickets 53367 metabolismTable 2Genetic causes of hypophosphatemic ricketsTable 3Laboratory characteristics of genetic causes of hypophosphatemic rickets Figure 1Near-total and partial alopecia in two children with VDDR2A (From the archives of Division of
metabolic bone disease 402 Riyadh, Saudi Arabia Publication date (ppub): 12/2017Publication date (epub): 12/2017AbstractRickets is a metabolic bone disease that develops as a result of inadequate mineralization of growing bone due to disruption of calcium,
metabolic bone disease 44021 Increased renal phosphate wasting, mild hypophosphatemia, increased 1,25(OH)2D and hypercalciuria without metabolic bone disease , can be present in patients with heterozygous SLC34A3 mutations, indicating haploinsufficiency ([124]).Oral
oculocerebrorenal syndrome 50104 heterogeneous and there is no genotype-phenotype correlation.Dent disease 2 (MIM 300555, or Lowe syndrome or oculocerebrorenal syndrome , MIM 309000) is also an X-linked recessive disease caused by mutations in the OCRL gene (MIM 300535)
osteoporosis 45644 probably represent a milder phenotype characterized by increased renal phosphate wasting, hypercalciuria, osteoporosis and nephrolithiasis in adults. Currently, there are 25 different mutations listed in the HGMD (accessed
osteoporosis 47715 Nephrolithiasis and Osteoporosis Type 2HRs with Nephrolithiasis and Osteoporosis type 2 (Nephrolithiasis/ osteoporosis , hypophosphatemic, 2, NPHLOP2, MIM 612287) is an autosomal dominant disease caused by mutations in the
pseudohypoparathyroidism 33142 13, 2017) and most of them (221 inactivating mutations) are found in patients with resistance to PTH ( pseudohypoparathyroidism or Albright hereditary osteodystrophy, which is different from the disease). In all patients reported
rickets 578 mineralization of growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Nutritional rickets remains a significant child health problem in developing countries. In addition, several rare genetic
rickets 698 significant child health problem in developing countries. In addition, several rare genetic causes of rickets have also been described, which can be divided into two groups. The first group consists of genetic
rickets 882 group consists of genetic disorders of vitamin D biosynthesis and action, such as vitamin D-dependent rickets type 1A (VDDR1A), vitamin D-dependent rickets type 1B (VDDR1B), vitamin D-dependent rickets type 2A
rickets 928 biosynthesis and action, such as vitamin D-dependent rickets type 1A (VDDR1A), vitamin D-dependent rickets type 1B (VDDR1B), vitamin D-dependent rickets type 2A (VDDR2A), and vitamin D-dependent rickets type
rickets 974 D-dependent rickets type 1A (VDDR1A), vitamin D-dependent rickets type 1B (VDDR1B), vitamin D-dependent rickets type 2A (VDDR2A), and vitamin D-dependent rickets type 2B (VDDR2B). The second group involves genetic
rickets 1024 D-dependent rickets type 1B (VDDR1B), vitamin D-dependent rickets type 2A (VDDR2A), and vitamin D-dependent rickets type 2B (VDDR2B). The second group involves genetic disorders of excessive renal phosphate loss (hereditary
rickets 1157 second group involves genetic disorders of excessive renal phosphate loss (hereditary hypophosphatemic rickets ) due to impairment in renal tubular phosphate reabsorption as a result of FGF23-related or FGF23-independent
rickets 1390 review, we focus on clinical, laboratory and genetic characteristics of various types of hereditary rickets as well as differential diagnosis and treatment approaches.INTRODUCTIONRickets is a disease of growing
rickets 1722 mineralization of osteoid tissue in the growth plate and bone matrix ([1]). The most frequent cause of rickets in Turkey, as well as in the rest of the world, continues to be nutritional vitamin D deficiency ([1],[2]).
rickets 1856 the rest of the world, continues to be nutritional vitamin D deficiency ([1],[2]). Genetic causes of rickets (hereditary rickets) are rare: accounting for about 13% of total rickets ([3]).They can be divided into
rickets 1876 world, continues to be nutritional vitamin D deficiency ([1],[2]). Genetic causes of rickets (hereditary rickets ) are rare: accounting for about 13% of total rickets ([3]).They can be divided into two groups: vitamin
rickets 1929 ([1],[2]). Genetic causes of rickets (hereditary rickets) are rare: accounting for about 13% of total rickets ([3]).They can be divided into two groups: vitamin D-dependent rickets which is caused by mutations
rickets 2000 accounting for about 13% of total rickets ([3]).They can be divided into two groups: vitamin D-dependent rickets which is caused by mutations either in enzymes involved in the vitamin D biosynthesis or vitamin D receptor
rickets 2144 in enzymes involved in the vitamin D biosynthesis or vitamin D receptor ([4]), and hypophosphatemic rickets (HR) which is caused by impaired renal tubular phosphate reabsorption or transport due to genetic disorders
rickets 7396 biosynthesis of vitamin D or its receptor activity result in vitamin D deficiency [vitamin D dependent rickets , type 1A (VDDR1A) and type 1B (VDDR1B)] or resistance [type 2A (VDDR2A) and type 2B (VDDR2B)]. All of
rickets 7570 (VDDR2A) and type 2B (VDDR2B)]. All of them present similar clinical and biochemical manifestations of rickets such as findings related to hypocalcemia (irritability, fatigue, muscle cramps, seizures) and rickets
rickets 7672 rickets such as findings related to hypocalcemia (irritability, fatigue, muscle cramps, seizures) and rickets (craniotabes, delayed closure of fontanelles, frontal bossing, enlarged wrists, bowed legs, short stature,
rickets 8020 deficiency, was first described by Prader et al in 1961 as an autosomal recessive, persistent infantile rickets that responded to high dose vitamin D ([16]). Fraser et al ([17]) later reported that this condition
rickets 8501 ([17],[18]). As a result, 25(OH)D cannot be converted to active 1,25(OH)2D, leading to clinical findings of rickets and vitamin D deficiency. To date, over 100 patients with 72 different mutations have been described
rickets 9338 than is reported.The disease is clinically similar to the phenotype of nutritional vitamin D-deficient rickets . The cases are usually normal at birth. However, growth retardation, skeletal deformities, muscle weakness,
rickets 9841 anterior fontanel, Harrison’s grooves and thoracic anomalies ([1],[26]).Similar to cases of nutritional rickets , typical cases with VDDR1A present with hypocalcemia, hypophosphatemia and increased serum levels of
rickets 10023 increased serum levels of alkaline phosphatase (ALP) and PTH (Table 1). In contrast to nutritional rickets , levels of 25(OH)D are generally normal and 1,25(OH)2D are low ([20]). Some patients may be misdiagnosed
rickets 10151 are generally normal and 1,25(OH)2D are low ([20]). Some patients may be misdiagnosed as nutritional rickets and thus incorrectly treated with high dose vitamin D, leading to very high levels of 25(OH)D. Renal
rickets 12119 al ([29]) in two Nigerian siblings of two and seven years old. Skeletal deformities compatible with rickets , hypocalcemia, hypophosphatemia, markedly elevated ALP and PTH, normal 1,25(OH)2D and low 25(OH)D levels
rickets 12963 Indeed, a 20-month-old male patient has been described recently having hypocalcemic convulsions and rickets ([33]). His mother, maternal grandmother and aunt also have a history of hypercalcemic convulsion and
rickets 13107 grandmother and aunt also have a history of hypercalcemic convulsion and skeletal deformities related with rickets in childhood. In all cases, hypocalcemia, hypophosphatemia, decreased 25(OH)D, markedly elevated ALP
rickets 13560 Vitamin D Dependent Rickets Type 2AVDDR2A (MIM 277440), also known as hereditary vitamin D-resistant rickets , was first described by Brooks et al ([34]) in 1978 in a case who had skeletal findings suggesting rickets,
rickets 13667 rickets, was first described by Brooks et al ([34]) in 1978 in a case who had skeletal findings suggesting rickets , short stature, hypocalcemia, elevated ALP, normal 25(OH)D, and very high 1,25(OH)2D. VDDR2A is an autosomal
rickets 18059 hyperparathyroidism ([48],[49]).1.4. Vitamin D Dependent Rickets Type 2BVDDR2B (MIM 600785) is an unusual form of rickets due to abnormal expression of a hormone response element-binding protein that interferes with normal
rickets 19371 renal phosphate wasting, leading to subsequent hypophosphatemia and bone mineralization defects such as rickets and osteomalacia. Hypophosphatemia and normal serum calcium are typical biochemical findings ([55]).Serum
rickets 22347 are typically detected. In a study comparing serum levels of ALP and PTH in HR, VDDR and nutritional rickets , the highest serum levels of PTH and ALP have been found in patients with VDDR and the lowest levels
rickets 23742 phosphate and elevated serum ALP and PTH may not always be diagnostic of HR. These can also be seen in rickets (especially in stage 2) associated with vitamin D deficiency or disorders of vitamin D biosynthesis
rickets 23939 biosynthesis ([20]). The distinctive finding is that PTH is significantly higher in vitamin D-related rickets , whereas normal/mildly elevated PTH is expected in HR ([26]). To date, a variety of genetic causes leading
rickets 28358 carriers: mild hypophosphatemia, low TRP and focal osteomalacia, without typical skeletal deformities of rickets ([80]).2.1.3.2. Autosomal Recessive Hypophosphatemic Rickets Type 2ARHR type 2 (ARHR2, MIM 613312) is
rickets 30337 renal phosphate wasting ([85]). Increased levels of FGF23 lead to decreased TRP, hypophosphatemia and rickets . Hyperparathyroidism due to diffuse parathyroid hyperplasia results in increased levels of PTH. It is
rickets 32927 increase in serum FGF23 level. TRP is decreased in 50% of cases ([91]). Therefore, hypophosphatemic rickets /osteomalacia can be seen in these patients. More than 250 mutations are listed in the HGMD (accessed
rickets 37096 response. Traditional calcitriol and phosphate therapy improves bone mineralization, skeletal findings of rickets and growth rate. However, despite these treatments, skeletal deformities may persist to varying degrees
rickets 40304 ([111]). In brief, oral phosphate should be given at the lowest dose that is sufficient to improve rickets and patients should be monitored for the development of hyperparathyroidism and nephrocalcinosis.Conventional
rickets 43691 development of hypercalciuria and nephrocalcinosis. Diagnosis can be made based on skeletal findings of rickets , hypophosphatemia, hypercalciuria and nephrolithiasis ([124],[125]). There are 33 mutations listed in
rickets 47324 phosphate replacement will result in improvement in bone pain, muscle strength and radiologic signs of rickets , with normalization of urinary calcium excretion and significant decrease in 1,25(OH)2D. However, the
rickets 48774 and FGF23 are normal. Osteopenia has been demonstrated in patients with NHERF1 mutations, although rickets has not yet been reported, probably reflecting late-onset and milder phenotype caused by the gene mutation.
rickets 49822 different CLCN5 mutations are listed in the HGMD (accessed Nov 13, 2017). The presence of hypophosphataemic rickets in Dent disease is variable from 30-50% in patients from US and UK, to rare in Japanese patients ([142],[143],[144]).
rickets 51384 molecules such as PTH, 1,25(OH)2D and FGF23. Nutritional vitamin D deficiency is the most common cause of rickets due to low vitamin D in breast milk, social and economic conditions that prevent access to vitamin D
rickets 51610 sources, or climatic conditions preventing adequate ultraviolet light exposure. Various genetic causes of rickets should be considered to avoid delay in diagnosis and treatment. Rickets caused by calcium deficiency
rickets 51934 intake. Although clinical presentations are usually similar, differential diagnosis of different types of rickets such as nutritional and VDDR (VDDR1A, VDDR1B, VDDR2A and VDDR2B) can be made by examining serum levels
rickets 53219 some HR patients whose genetic defects remain to be identified.Table 1Laboratory characteristics of rickets associated with vitamin D metabolismTable 2Genetic causes of hypophosphatemic ricketsTable 3Laboratory
rickets 53305 characteristics of rickets associated with vitamin D metabolismTable 2Genetic causes of hypophosphatemic rickets Table 3Laboratory characteristics of genetic causes of hypophosphatemic ricketsFigure 1Near-total and
rickets 53384 of hypophosphatemic ricketsTable 3Laboratory characteristics of genetic causes of hypophosphatemic rickets Figure 1Near-total and partial alopecia in two children with VDDR2A (From the archives of Division of
secondary hyperparathyroidism 17786 calcium (calcium chloride) via gastric tube ([47]). Prolonged serum calcium deprivation might lead to secondary hyperparathyroidism and, if not managed properly, tertiary hyperthyroidism. Cinacalcet is reported to be effective in cases
secondary hyperparathyroidism 36586 levels by giving aggressive phosphate therapy as this might lead to side effects such as diarrhea, secondary hyperparathyroidism , increased FGF23 synthesis, nephrocalcinosis and renal insufficiency ([105]). In addition, serum phosphate
thyrotoxicosis 32649 puberty, but is clinically heterogeneous and usually include hyperfunctional endocrinopathies such as thyrotoxicosis , pituitary gigantism and Cushing syndrome due to autonomous hormonal hyper-production ([90]). There

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