Genetic causes of hypomagnesemia, a clinical overview

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Term Occurence Count Dictionary
hyperuricemia 1 endocrinologydiseases
hypokalemia 7 endocrinologydiseases
mitochondrial disease 2 endocrinologydiseases
phenobarbital 1 endocrinologydiseasesdrugs
Gitelman syndrome 8 endocrinologydiseases
calcinosis 10 endocrinologydiseases
tetany 1 endocrinologydiseases
hypoparathyroidism 3 endocrinologydiseases
omeprazole 1 endocrinologydiseasesdrugs

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Select Drug Character Offset Drug Term Instance
omeprazole 9372 thiazide)Epidermal growth factor receptor inhibitors (cetuximab)Proton pump inhibitors (all, such as omeprazole )Calcineurin inhibitors (cyclosporin A, tacrolimus)Platinum derivatives (cisplatin, carboplatin)Antimicrobials
phenobarbital 37567 secondary to the Mg2+ deficiency. In both cases, treatment with anticonvulsants such as valproate or phenobarbital might be beneficial [[41]].Summary and future perspectivesIn summary, the identification of the different
Select Disease Character Offset Disease Term Instance
Gitelman syndrome 12385 nephrocalcinosisGitelman-like hypomagnesemiasHypocalciuria, hypokalemia, metabolic alkalosis Gitelman syndrome SLC12A3NCC263800RDCT0.491:40 000Chondrocalcinosis at older age Bartter syndrome, type 4BSNDBarttin602522RDCT/TAL0.6010s
Gitelman syndrome 21015 arrhythmias [[32]–[34]], justifying avoidance of drugs prolonging the QT interval [[32]].SLC12A3 ( Gitelman syndrome )With an estimated prevalence of 1:40 000 [[31]], Gitelman syndrome is the most frequent genetic cause
Gitelman syndrome 21082 the QT interval [[32]].SLC12A3 (Gitelman syndrome)With an estimated prevalence of 1:40 000 [[31]], Gitelman syndrome is the most frequent genetic cause of hypomagnesemia. It is caused by recessive mutations in SLC12A3,
Gitelman syndrome 21824 Gitelman-like hypomagnesemias, resulting in polyuria, salt craving and thirst [[37]]. The mechanism by which Gitelman syndrome causes hypomagnesemia is still not fully understood. One explanation can be found in the atrophy of
Gitelman syndrome 21993 understood. One explanation can be found in the atrophy of the DCT that has been observed in a mouse model of Gitelman syndrome [[29]]. Additionally, a reduced apical membrane potential and a reduction in TRPM6 activation or mobilization
Gitelman syndrome 36117 Parenteral and oral Mg2+ supplementation is therefore recommended in many of the hypomagnesemias, including Gitelman syndrome , Bartter syndrome, EAST syndrome and those caused by TRPM6 mutations [[14], [31], [41]]. The resulting
Gitelman syndrome 39392 clarification. This even holds true for several well-known and thoroughly described hypomagnesemias, such as Gitelman syndrome . After all, some observations cannot be explained by current understanding. The proposed atrophy of
Gitelman syndrome 39563 current understanding. The proposed atrophy of the DCT, for example, has been observed in mice with Gitelman syndrome [[29]], but it is not present in mice on chronic thiazide treatment-induced hypomagnesemia [[30]]. The
calcinosis 4193 weaknessTremorParesthesias and palpitationsHypokalemiaHypoparathyroidism resulting in hypocalcemiaChondro calcinosis Failure to thrive (in children)Spasticity and tetanySeizuresElectrocardiography changes, including prolonged
calcinosis 11802 families/patientsDistinctive findings, other than hypomagnesemiacHypercalciuric hypomagnesemiasHypercalciuria, nephro calcinosis FHHNC type 1CLDN16Claudin-16248250RTAL0.49100s of patientsPolyuria/polydipsia, elevated serum
calcinosis 12292 (classical type)CLCNKBClC-Kb607634RDCT/TAL0.63100s of patientsGitelman-like phenotype possible, rarely nephro calcinosis Gitelman-like hypomagnesemiasHypocalciuria, hypokalemia, metabolic alkalosis Gitelman syndromeSLC12A3NCC263800RDCT0.491:40
calcinosis 12441 hypomagnesemiasHypocalciuria, hypokalemia, metabolic alkalosis Gitelman syndromeSLC12A3NCC263800RDCT0.491:40 000Chondro calcinosis at older age Bartter syndrome, type 4BSNDBarttin602522RDCT/TAL0.6010s of patientsPrenatal complications,
calcinosis 14293 sensorineural deafness and tubulopathy; FHHNC, familial hypomagnesemia with hypocalcemia and nephro calcinosis ; HHH, hypertension, hypercholesterolemia and hypomagnesemia; HPABH4D, hyperphenylalaninemia BH4-deficient;
calcinosis 16239 meeting the criterion for this group. Clinically, genetic disorders in this group can result in nephro calcinosis or in chronic kidney disease (CKD), although the incidence and speed of progression differs from one
calcinosis 16447 one to the other [[4], [15]].CLDN16 and CLDN19 (familial hypomagnesemia with hypocalcemia and nephro calcinosis )Recessive mutations in CLDN16 (encoding claudin-16) and CLDN19 (encoding claudin-19) are the most frequent
calcinosis 16872 [[18]]). Consequently, patients suffer from hypomagnesemia and its associated symptoms, childhood nephro calcinosis possibly due to the hypercalciuria and polyuria with polydipsia due to additional sodium (Na+) and volume
calcinosis 17281 typically in the second or third decade of life [[20]]. The cause of the CKD is unclear, although nephro calcinosis may be a contributory factor.CASR gain-of-function (autosomal dominant hypocalcemia with hypercalciuria)Gain-of-function
calcinosis 18112 the most important symptom, which, especially when “mistreated” with vitamin D, can lead to nephro calcinosis in certain cases (reviewed in [[24]]). Moreover, in patients with more severe gain-of-function of CASR,
hyperuricemia 14527 hypomagnesemia with secondary hypocalcemia; HSMR, hypomagnesemia with seizures and mental retardation; HUPRAS, hyperuricemia , pulmonary hypertension, renal failure and alkalotic syndrome; IDH, isolated dominant hypomagnesemia;
hypokalemia 4353 tetanySeizuresElectrocardiography changes, including prolonged QT interval (especially with concomitant hypokalemia )Cardiac arrhythmias (especially with concomitant hypokalemia)Basal ganglia calcificationsComaIntellectual
hypokalemia 4414 interval (especially with concomitant hypokalemia)Cardiac arrhythmias (especially with concomitant hypokalemia )Basal ganglia calcificationsComaIntellectual disabilityDeathaConsequences of hypomagnesemia are presented
hypokalemia 12346 patientsGitelman-like phenotype possible, rarely nephrocalcinosisGitelman-like hypomagnesemiasHypocalciuria, hypokalemia , metabolic alkalosis Gitelman syndromeSLC12A3NCC263800RDCT0.491:40 000Chondrocalcinosis at older
hypokalemia 20726 levels of aldosterone force the collecting duct to secrete potassium in exchange for sodium, leading to hypokalemia , which, in turn, leads to alkalosis. In addition, the combination of hypomagnesemia with hypokalemia
hypokalemia 20827 hypokalemia, which, in turn, leads to alkalosis. In addition, the combination of hypomagnesemia with hypokalemia observed in this group can give rise to a prolonged QT interval and cardiac arrhythmias [[32]–[34]],
hypokalemia 28028 patients is not seen in PCBD1-disease due to a different expression pattern of these two proteins. Lastly, hypokalemia and hypocalciuria have not been reported in these patients. Still, it is placed here with the Gitelman-like
hypokalemia 36986 glycerophospate rather than magnesium oxide or magnesium sulfate for oral Mg2+ supplementation [[31]].Since hypokalemia is commonly associated with hypomagnesemia, especially in the Gitelman-like hypomagnesemias, one might
hypoparathyroidism 13963 myokymia KCS2FAM111AFAM111A127000DTAL?0.4610s of patientsImpaired skeletal development and hypocalcemic hypoparathyroidism aADH, Autosomal dominant hypomagnesemia; ADHH, autosomal dominant hypocalcemia with hypocalciuria; ADTKD,
hypoparathyroidism 17988 selectivity in the tight junctions (reviewed in [[23]]). Hypercalciuric hypocalcemia with relative hypoparathyroidism is the most important symptom, which, especially when “mistreated” with vitamin D, can lead to nephrocalcinosis
hypoparathyroidism 34911 proportionate short stature, radiological bone anomalies, eye abnormalities and hypocalcemia owing to hypoparathyroidism (reviewed in [[82]]). FAM111A has been reported to be a host-range restriction factor [[86]] and shown
mitochondrial disease 29678 hypercholesterolemia and hypomagnesemia [[56]]. An additional two cases of patients with hypomagnesemia and other mitochondrial disease s have also been identified (mutations in POLG1 and the mitochondrial Pearson’s syndrome [[63], [64]]).
mitochondrial disease 29976 practice, it would be interesting to investigate the genuine frequency of hypomagnesemia in patients with mitochondrial disease .Other hypomagnesemiasThe remaining disorders associated with hypomagnesemia are classified in this review
tetany 4249 palpitationsHypokalemiaHypoparathyroidism resulting in hypocalcemiaChondrocalcinosisFailure to thrive (in children)Spasticity and tetany SeizuresElectrocardiography changes, including prolonged QT interval (especially with concomitant hypokalemia)Cardiac

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