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تعداد آیتم قابل مشاهده باقیمانده: 4

Genetic causes of hypomagnesemia

Genetic causes of hypomagnesemia
Gene(s) Disease name Inheritance Affected nephron segment Renal manifestations Extrarenal manifestations
Hypomagnesemia with high urine calcium
CLDN16, CLDN19 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis Recessive TALH High urine calcium, nephrocalcinosis, CKD  
CASR Autosomal dominant hypocalcemia Dominant TALH High urine calcium, nephrocalcinosis Hypocalcemia, low PTH
CLCKNB Bartter syndrome, type 3 Recessive TALH/DCT Salt wasting, hypokalemia, metabolic alkalosis, high or low urine calcium  
RRAGD   Dominant TALH/DCT Salt wasting, hypokalemia, metabolic alkalosis, high urine calcium, nephrocalcinosis Dilated cardiomyopathy
Hypomagnesemia with low urine calcium (Gitelman-like syndrome)
SLC12A3 Gitelman syndrome Recessive DCT Salt wasting, hypokalemia, metabolic alkalosis, low urine calcium  
KCNJ10 EAST (SeSAME) syndrome Recessive DCT Salt wasting, hypokalemia, metabolic alkalosis, low urine calcium Seizures, deafness, ataxia, intellectual disability
MT-TI, MT-TF   Mitochondrial   Hypokalemia, low urine calcium, CKD  
HNF1B-related disorders
HNF1B Autosomal dominant tubulointerstitial kidney disease (ADTKD)-HNF1B Dominant DCT Low urine calcium CAKUT, monogenic diabetes
PCBD1   Recessive DCT   Monogenic diabetes
Isolated dominant hypomagnesemia
FXYD2   Dominant DCT Low urine calcium  
ATP1A1   Dominant     Seizures in infancy, intellectual disability
KCNA1   Dominant DCT    
CNNM2   Dominant/recessive DCT   Seizures in infancy, intellectual disability, obesity
Other inherited hypomagnesemia
EGF Isolated recessive hypomagnesemia Recessive DCT    
TRPM6 Hypomagnesemia with secondary hypocalcemia Recessive DCT Hypocalcemia Decreased intestinal magnesium absorption
CAKUT: congenital anomalies of the kidney and urinary tract; CKD: chronic kidney disease; DCT: distal convoluted tubule; EAST: epilepsy, ataxia, sensorineural deafness, and tubulopathy; PTH: parathyroid hormone; TALH: thick ascending limb of the loop of Henle.
Graphic 145440 Version 1.0

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