Clinical presentation and outcome in primary familial hypomagnesaemia
نویسندگان
چکیده
منابع مشابه
Clinical presentation and outcome in primary familial hypomagnesaemia.
The clinical presentation and long term outcome (mean follow up eight years, range 0.25 to 21) of 15 patients with autosomal recessive primary familial hypomagnesaemia is described. The most common (67%) presenting events were generalised hypocalcaemic-hypomagnesaemic seizures at a mean (SD) age of 4.9 (2.5) weeks. Thirteen infants, treated soon after diagnosis with high dose enteral magnesium ...
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Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal-recessive renal tubular disorder characterized by excessive urinary losses of magnesium and calcium, bilateral nephrocalcinosis and progressive chronic renal failure. Presentation with FHHNC symptoms generally occurs early in childhood or before adolescence. At present, the only therapeutic option is suppo...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1998
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.78.2.127