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Low C3 in a 4-month-old baby: is it a problem?
Gülşah Kaya Aksoy1, Mustafa Gökhan Ertosun2, Mustafa Koyun3
1Department of Pediatric Nephrology, Faculty of Medicine, Akdeniz University, Antalya, 07100, Turkey. gkayaaksoy@gmail.com.
Insights
Early genetic screening for chronic kidney disease (CKD) is crucial. Identifying a CFH gene mutation in a baby with low C3 levels, despite normal kidney function, highlights the importance of proactive diagnosis in at-risk families.
Area of Science:
- Nephrology
- Genetics
- Pediatric Medicine
Background:
- Familial history of chronic kidney disease (CKD) is a significant risk factor.
- Membranoproliferative glomerulonephritis and C3 glomerulopathy are progressive kidney diseases.
- Early diagnosis and intervention are critical for managing inherited kidney disorders.
Purpose of the Study:
- To investigate the genetic basis of kidney disease in a pediatric patient with a family history of CKD.
- To identify potential genetic mutations contributing to low serum C3 levels in an infant.
- To emphasize the role of early genetic screening in at-risk populations.
Main Methods:
- Clinical exome analysis was performed to identify genetic variations.
- Serum C3 levels and kidney function tests were analyzed.
- Family history of kidney disease was documented.
Main Results:
- A heterozygous mutation in the CFH gene was identified in the patient.
- The same mutation was found in homozygous form in an affected uncle.
- The patient presented with normal kidney function but low serum C3 levels.
Conclusions:
- The CFH gene mutation is implicated in the familial kidney disease.
- Early genetic screening can detect predispositions to kidney disease even with normal initial test results.
- Proactive identification of at-risk individuals is vital for preserving kidney function and improving outcomes.
Abstract:
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.
