Low C3 in a 4-month-old baby: is it a problem?


Aksoy G. K., ERTOSUN M. G., KOYUN M., ÇOMAK E., AKMAN S.

Pediatric Nephrology, cilt.39, sa.5, ss.1427-1428, 2024 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 39 Sayı: 5
  • Basım Tarihi: 2024
  • Doi Numarası: 10.1007/s00467-023-06228-x
  • Dergi Adı: Pediatric Nephrology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, CINAHL, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.1427-1428
  • Anahtar Kelimeler: C3 glomerulopathy, Factor H mutation, Hypocomplementaemia
  • Akdeniz Üniversitesi Adresli: Evet

Özet

A 4-month-old male baby was admitted because his father and uncles had chronic kidney disease. His father was diagnosed with membranoproliferative glomerulonephritis at the age of 5, underwent a kidney transplant at the age of 22, and lost the graft due to recurrence of the disease. In contrast, the young uncle was diagnosed with C3 glomerulopathy and mycophenolate mofetil and eculizumab were initiated early. It was remarkable that our patient had normal kidney function and urine analyses but low serum C3 level (0.56 g/L; N, 0.9–1.8 g/L). In the disease-associated clinical exome analysis, a heterozygous change in the CFH gene was found. The same mutation was found homozygous in the uncle. In genetically inherited diseases, findings may occur sequentially; early screening of at-risk individuals contributes to kidney survival.