Volume 10, Issue 3 (6-2007)
J Arak Uni Med Sci 2007, 10(3): 107-111 |
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Seiedzade A, Maleki M. A case report of hypomagnesemia hypercalciuria nephrocalcinosis in a 3 years old child. J Arak Uni Med Sci 2007; 10 (3) :107-111
URL: http://jams.arakmu.ac.ir/article-1-79-en.html
URL: http://jams.arakmu.ac.ir/article-1-79-en.html
1- , asayedzade @kums.ac.ir
Abstract: (14791 Views)
Introduction: Hypomagnesemia hypercalciuria nephrocalcinosis (HHNC) is a rare syndrome due to mutation defect in CLDN-16 gene. Its product is paracellin, a protein in henle loop paracellur area which acts in magnesium and calaium reabsorption. In this article a case of HHNC is reported. Case: The patient is a 3 years old boy presented with tetany, polyuria and polydipsia. Imaging study revealed medullary nephrocalcinosis. Laboratory investigations showed hypomagnesemia, hypercalciuria, hypermagnesiuria and normal arterial blood gases. In 2 years follow up, no neurological diseases, growth failure, or rickets were seen. He was treated with Hydrochlorothiazide and Potassium polycitra for prevention of nephrocalcinosis and progressive renal failure. Conclusion: HHNC is a rare syndrome presenting with hypercalciuria, hypo- magnesemia nephrocalcalcinosis, tetany, polyuria and polydypsia which progresses to end stage renal failure in 2nd or 3rd decades. Early diagnosis and some treatment modalities like Hydrochlorothiazide or polycitra-k can delay this process.
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