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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in 2 sisters
Saudi Medical Journal. 2008; 29 (3): 447-451
in English | IMEMR | ID: emr-90156
ABSTRACT
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis FHHNC is a rare autosomal recessive tubular disorder characterized by excessive renal magnesium and calcium wasting, eventually, progressing to renal failure. It has been recently attributed to a mutation in the Claudin 16 CLDN 16 gene of the Paracellin-1 PCLN-1 tight junction protein. Herein, we report 2 sisters with FHHNC. Both sisters presented at an early stage with hypomagnesemia and hypocalcemia. The first patient was initially mislabeled and treated as a case of hypoparathyroidism, while the second patient was diagnosed retrospectively after the diagnosis of her sister. The 2 patients developed end stage renal disease
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Index: IMEMR (Eastern Mediterranean) Main subject: Diagnosis, Differential / Renal Insufficiency / Genes, Recessive / Hypoparathyroidism / Magnesium / Nephrocalcinosis Type of study: Case report Limits: Female / Humans Language: English Journal: Saudi Med. J. Year: 2008

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Index: IMEMR (Eastern Mediterranean) Main subject: Diagnosis, Differential / Renal Insufficiency / Genes, Recessive / Hypoparathyroidism / Magnesium / Nephrocalcinosis Type of study: Case report Limits: Female / Humans Language: English Journal: Saudi Med. J. Year: 2008