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


  • Mukesh Kene Department of Pediatrics, Rajawadi Hospital, Ghatkopar, East Mumbai, Maharashtra, India
  • Rahul Patil Sai Child Care Hospital Panvel, Navi Mumbai, Maharashtra, India
  • Sneha Thakur PMMM Shatabdi Hospital, Mumbai, Maharashtra, India
  • Mahesh Mohite Sai Child Care Hospital Panvel, Navi Mumbai, Maharashtra, India
  • Prashant Patil Department of Pediatrics, Apollo Hospital, Belapur, Navi Mumbai, India



Congenital nephrotic syndrome, NPHS1 gene, Hypocalcaemia, Hypomagnesaemia


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.


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