Familial hypomagnesaemia with secondary hypocalcaemia
نویسندگان
چکیده
منابع مشابه
Hypomagnesaemia with Secondary Hypocalcaemia
In 1965, Paunier et al. described a child of 6 weeks who had generalized convulsions and tetany, associated with low serum magnesium and calcium levels. Magnesium therapy stopped the tetany and established a normal serum calcium level. Similar cases were later reported by Salet et al. (1966), Friedman, Hatcher, and Watson (1967), and Skyberg et al. (1967). Most of these authors suggested that t...
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BACKGROUND TRPM6 gene mutation has been reported to cause hypomagnesemia with secondary hypocalcemia (HSH). However, the genotype-phenotype correlation for TRPM6 gene mutations has not been clarified. OBJECTIVE To elucidate the factors underlying the severe neurological complications in HSH and evaluate the potential association between the location of TRPM6 gene mutations and clinical data o...
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A well-nourished alcoholic patient developed a subacute myopathy which responded rapidly to correction of severe hypomagnesaemia. The finding of profound hypocalcaemia prompted the measurement of serum magnesium. Magnesium deficiency should be looked for in any alcoholic patient with a myopathy as the prognosis seems better than in many other forms of alcoholic myopathy. Correction of the magne...
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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: BMJ Case Reports
سال: 2016
ISSN: 1757-790X
DOI: 10.1136/bcr-2016-216870