Recurrent hypomagnesemia: an uncommon presentation in congenital nephrotic syndrome caused by NPHS-1 mutation
Keywords: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.
Gautier P, Miville D. Syndrome de nephrose lipoidique congenitale. Rev Med Suisse Rom. 1942;62:740.
Spahiu L, Merovci B, Jashari H, Kepuska AB, Rugova BE. Congenital nephrotic syndrome - finish type. Med Arch. 2016;70:232-4.
Rapola J. Congenital nephrotic syndrome. Pediatric Nephrol. 1987;1:441-6.
Wang JJ, Mao JH. The etiology of congenital nephrotic syndrome: Current status and challenges. World J Pediatr. 2016;12:149-58.
Bérody S, Heidet L, Gribouval O, Harambat J, Niaudet P, Baudouin V, et al. Treatment and outcome of congenital nephrotic syndrome. Nephrol Dial Transplant. 2019;34(3):458-67.
Wu LQ, Hu JJ, Xue JJ, Liang DS. Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome. Genet Mol Res. 2011;10(4):2517-22.
Boyer O, Schaefer F, Haffner D, Bockenhauer D, Hölttä T, Bérody S, et al. Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group. Nat Rev Nephrol. 2021;17(4):277-89.
Goldstein DA, Haldimann B, Sherman D, Norman AW, Massry SG. Vitamin D metabolites and calcium metabolism in patients with nephrotic syndrome and normal renal function. J Clin Endocrinol Metab. 1981;52:116-21.
Sato KA, Gray RW, Lemann J. Urinary excretion of 25-hydroxyvitamin D in health and the nephrotic syndrome. J Lab Clin Med. 1982;99:325-30.
Jalanko H. Congenital nephrotic syndrome. Pediatr Nephrol. 2009;24:2121-8.
Selewski DT, Chen A, Shatat IF, Pais P, Greenbaum LA, Geier P, et al. Vitamin D in incident nephrotic syndrome: a Midwest Pediatric Nephrology Consortium study. Pediatr Nephrol. 2016;31(3):465-72.
Panczyk-Tomaszewska M, Adamczuk D, Kisiel A, Skrzypczyk P, Przedlacki J, Gorska E, et al. Markers of bone metabolism in children with nephrotic syndrome treated with corticosteroids. Advances in experimental medicine and biology. 2015;840:21-8.