Publication:

Recurrent hypomagnesemia: an uncommon presentation in congenital nephrotic syndrome caused by NPHS-1 mutation

Congenital nephrotic syndrome (CNS) is a rare inherited disorder arising from defects in the proteins of the cells in the glomerular basement membrane and develops either in utero or at birth. The clinical presentation is the result of massive proteinuria. Here we report an interesting clinical case of boy, with history of multiple admissions with involuntary movements found to have recurrent hypocalcaemia and hypomagnesaemia during each admission. Genetic evaluation (clinical exome sequencing) revealed homozygous deletion at exon 23-25 of NPHS1 (NM_004646.4) gene CNS (Finnish type). Child did not have anasarca. CNS presenting as recurrent hypomagnesaemia with absence of anasarca is very rare occurrence in literature.