The oculocerebrorenal syndrome of Lowe: an update

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Term Occurence Count Dictionary
Fanconi syndrome 8 endocrinologydiseases
calcinosis 5 endocrinologydiseases
cholecalciferol 1 endocrinologydiseasesdrugs
hypokalemia 2 endocrinologydiseases
leukodystrophy 2 endocrinologydiseases
metachromatic leukodystrophy 1 endocrinologydiseases
rickets 1 endocrinologydiseases
hypophosphatemic rickets 1 endocrinologydiseases
oculocerebrorenal syndrome 5 endocrinologydiseases
testosterone 1 endocrinologydiseasesdrugs

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Select Drug Character Offset Drug Term Instance
cholecalciferol 16374 were obtained while PTH levels were normal, and seven of the 16 patients investigated required 1-OH cholecalciferol substitution to keep the level of PTH in the normal range.GlycosuriaThe most striking difference with
testosterone 25497 about one-third of Low syndrome patients [[32]]. Puberty is normal in the majority of patients, as are testosterone levels [[13]]. Fertility may be reduced due to peritubular fibrosis and azoospermia [[75]].Dermatological
Select Disease Character Offset Disease Term Instance
Fanconi syndrome 590 hypotonia are the typical first diagnostic clues apparent at birth, the manifestations of incomplete renal Fanconi syndrome are often recognized only later in life. Other characteristic features are progressive severe growth
Fanconi syndrome 3925 reflexesElevated creatinine kinase/lactate dehydrogenaseLow-molecular-weight proteinuria1–3 months Fanconi syndrome InfancyGlaucomaGrowth retardationDevelopmental delayChildhoodBehavioral abnormalitiesCorneal scarring,
Fanconi syndrome 12200 uptake is a common mechanism of LWM proteinuria and lysosomal enzymuria in Lowe and other forms of the Fanconi syndrome . Ungewickell and Majerus reported a 1.6- to 2.0-fold increase in plasma levels of seven lysosomal enzymes
Fanconi syndrome 15342 ammonia production differentiated patients with Lowe syndrome from those with other forms of the renal Fanconi syndrome in whom a strongly increased amount of ammonia was detected [[1]].PhosphaturiaAs with other proximal
Fanconi syndrome 16517 level of PTH in the normal range.GlycosuriaThe most striking difference with other forms of the renal Fanconi syndrome is the absence of glycosuria in the vast majority of patients with Lowe syndrome [[2], [7], [32], [43],
Fanconi syndrome 17238 syndrome [[50], [51]], with Dent-1/Dent-2 disease [[52], [53]], as well as with other forms of the renal Fanconi syndrome [[54]].Progressive renal failureSlowly progressive renal failure is a hallmark of Lowe syndrome and
Fanconi syndrome 21544 often required to normalize increased PTH levels [[2]]. However, even in the presence of well-corrected Fanconi syndrome , some patients have repeat pathologic bone fractures with poor healing []. There is one report describing
Fanconi syndrome 21774 combination of intravenous pamidronate treatment with growth hormone and the standard therapy of renal Fanconi syndrome in a pre-pubertal 17-year-old Lowe syndrome patient with multiple fractures, extreme stunting, and osteopenia
calcinosis 12638 proximal tubular cells and might also explain tissue damage in Lowe syndrome patients.Hypercalciuria/nephro calcinosis Hypercalciuria is a common finding in patients with Lowe syndrome and in Dent-2 patients [[2], [7], [42],
calcinosis 13935 regulated by OCRL-1 and mediates 1,25-dihydroxyvitamin D3 action in intestinal epithelial cells.Nephro calcinosis /nephrolithiasis is present in approximately one-half of Lowe syndrome patients [[2], [7]]. Stones are
calcinosis 14175 and calcium phosphate [[2]]. Similar to patients with CLCN5 variants [[46]], the presence of nephro calcinosis /nephrolithiasis has not been found to be related to calciuria or to age [[2]].There are no data on the
calcinosis 14308 not been found to be related to calciuria or to age [[2]].There are no data on the treatment of nephro calcinosis in patients with Lowe syndrome. Thiazide diuretics have been used to decrease calcium excretion in Dent-1
calcinosis 14695 be useful as it corrects both hypokalemia and metabolic acidosis and has been shown to retard nephro calcinosis in an animal model of Dent-1 disease [[48]].AcidosisHyperchloremic metabolic acidosis is a common finding
hypokalemia 14544 but the use of diuretics in the setting of renal potassium loss has to be weighed against the risk of hypokalemia and hypovolemia. Potassium citrate may be useful as it corrects both hypokalemia and metabolic acidosis
hypokalemia 14625 against the risk of hypokalemia and hypovolemia. Potassium citrate may be useful as it corrects both hypokalemia and metabolic acidosis and has been shown to retard nephrocalcinosis in an animal model of Dent-1 disease
hypophosphatemic rickets 15899 approximately 40–50 % of Lowe syndrome patients [[7], [32], [43], [49]]. Abbassi et al. [[32]] reported that hypophosphatemic rickets was observed in 50 % of their untreated patients with Lowe syndrome, usually manifesting at the age
leukodystrophy 8560 This pattern of demyelination has also been described in Pelizaeus–Merzbacher disease, globoid cell leukodystrophy , and metachromatic leukodystrophy. Proton MR spectroscopy in Lowe syndrome has shown prominent myoinositol
leukodystrophy 8594 also been described in Pelizaeus–Merzbacher disease, globoid cell leukodystrophy, and metachromatic leukodystrophy . Proton MR spectroscopy in Lowe syndrome has shown prominent myoinositol peaks suggesting the presence
metachromatic leukodystrophy 8580 demyelination has also been described in Pelizaeus–Merzbacher disease, globoid cell leukodystrophy, and metachromatic leukodystrophy . Proton MR spectroscopy in Lowe syndrome has shown prominent myoinositol peaks suggesting the presence
oculocerebrorenal syndrome 49 Title: Pediatric Nephrology (Berlin, Germany)The oculocerebrorenal syndrome of Lowe: an updateArend BökenkampMichael LudwigPublication date (epub): 3/2016Publication date (pmc-release):
oculocerebrorenal syndrome 235 date (epub): 3/2016Publication date (pmc-release): 3/2016Publication date (ppub): /2016AbstractThe oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts,
oculocerebrorenal syndrome 894 debilitating arthropathy. Treatment is symptomatic, and the life span rarely exceeds 40 years. The causative oculocerebrorenal syndrome of Lowe gene (OCRL) encodes the inositol polyphosphate 5-phosphatase OCRL-1. OCRL variants have not
oculocerebrorenal syndrome 1908 syndrome and the cellular and physiological functions of OCRL-1.IntroductionThe classic form of the oculocerebrorenal syndrome of Lowe (OMIM #309000), first described by Lowe et al. in 1952 [[1]], is characterized by the triad
oculocerebrorenal syndrome 38368 spectrum spanning from an isolated tubulopathy (Dent-2 disease) to the most severe presentation of the oculocerebrorenal syndrome described by Lowe et al. in the 1950s. Much progress has been made in terms of understanding the many
rickets 15916 Lowe syndrome patients [[7], [32], [43], [49]]. Abbassi et al. [[32]] reported that hypophosphatemic rickets was observed in 50 % of their untreated patients with Lowe syndrome, usually manifesting at the age

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