Hypomagnesaemia with secondary hypocalcaemia due to TRPM6 gene mutation
نویسندگان
چکیده
منابع مشابه
New TRPM6 mutation and management of hypomagnesaemia with secondary hypocalcaemia.
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...
متن کاملHypomagnesaemia 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...
متن کاملHypomagnesemia with Secondary Hypocalcemia Linked to a Novel TRPM6 Gene Mutation
Hypomagnesemia with secondary hypocalcemia (HSH) is a rare inherited disorder, characterized by extremely low levels of serum magesium associated with symptomatic hypocalcemia. HSH manifests in the new born period with neurological symptoms, including generalized seizures, which are refractory to anticonvulsant treatment. In this disorder, the basic abnormality is the defective intestinal absor...
متن کاملClinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genes.
BACKGROUND Recent identification and characterization of novel renal Mg(2+) transporters and ion channels have greatly increased our understanding of the normal physiology of renal magnesium handling. METHODS The present study deals with the clinical and molecular characterization of eight Turkish children (median age 10.6 years, range 3-16.2 years, five boys and three girls) with primary hyp...
متن کاملHypomagnesaemia causing myopathy and hypocalcaemia in an alcoholic.
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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ژورنال
عنوان ژورنال: Sri Lanka Journal of Child Health
سال: 2012
ISSN: 2386-110X,1391-5452
DOI: 10.4038/sljch.v41i4.4989