Approach to familial hematuric diseases: Review Ailesel Hematurik Hastaliklara Yaklaşim
Turkiye Klinikleri Pediatri, cilt.25, sa.4, ss.212-220, 2016 (Scopus)
- Yayın Türü: Makale / Derleme
- Cilt numarası: 25 Sayı: 4
- Basım Tarihi: 2016
- Doi Numarası: 10.5336/pediatr.2016-51679
- Dergi Adı: Turkiye Klinikleri Pediatri
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.212-220
- Anahtar Kelimeler: Genetic, Hematuria
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Hematuria is a common presenting complaint in pediatric nephrology clinics and often has a familial basis. Although macroscopic hematuria is a quite threatening emergency situation for both families and doctors, microscopic hematuria may remain unnoticed for a long time. It is important to identify the underlying cause. Familial hematuric diseases are monogenic, various clinical types are caused by mutations in different genes. These genes are collagen Type 4 genes; COL4A3/A4/A5 released from glomerular basement membrane, complement factor H related 5 (CFHR 5) gene and fibronectin 1 (FN1) gene. The diseases in this group show age-dependent pene trance and have a wide phenotypic heterogeneity. The gold standard for definitive diagnosis is the molecular genetic analysis. In our review, we shall focus on hereditary familial hematuria of glomerular origin, which implicate three mutant proteins.