Low C3 in a 4-month-old baby: is it a problem?
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...
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| Veröffentlicht in: | Pediatric nephrology (Berlin, West) West), 2024-05, Vol.39 (5), p.1427-1428 |
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| container_title | Pediatric nephrology (Berlin, West) |
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| creator | Aksoy, Gülşah Kaya Ertosun, Mustafa Gökhan Koyun, Mustafa Çomak, Elif Akman, Sema |
| description | 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. |
| doi_str_mv | 10.1007/s00467-023-06228-x |
| format | Article |
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CFH
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CFH
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CFH
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| subjects | Age Biopsy Clinical Insights Creatinine Glomerulonephritis Hematuria Hereditary diseases Kidney diseases Kidney transplantation Kidney transplants Medical prognosis Medicine Medicine & Public Health Mutation Mycophenolate mofetil Mycophenolic acid Nephrology Pediatrics Urology |
| title | Low C3 in a 4-month-old baby: is it a problem? |
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