Author/Editor		Meglič, Anamarija; Šlajpah, Maja; Berginc, Gašper; Stražišar, Mojca; Glavač, Damjan
Title		The importance of molecular diagnostics in children hereditary hematuria: differential diagnostic questions in clinical practise
Translated title		Pomen molekularnogenetske analize pri otrocih z dednimi hematurijami: diferencialno diagnostična vprašanja v klinični praksi
Type		članek
Source		In: Luzar B, Poljak M, Glavač D, et al, editors. Molekularna diagnostika v medicini. Zbornik 15. spominsko srečanje akademika Janeza Milčinskega, 36. memorialni sestanek profesorja Janeza Plečnika, 1. srečanje Slovenskega društva za humano genetiko z mednarodno udeležbo; 2005 30 nov - 2 dec; Ljubljana. Ljubljana: Medicinska fakulteta,
Publication year		2005
Volume		str. 241-7
Language		eng
Abstract		In patients, including small children, with microhematuria and a positive history of microhematuria or renal disease in other family members, the diagnosis could be Alport syndrome (AS) or thin basement membrane nephropathy (TBMN). Both are caused by mutations in three type IV collagen genes (COL4A3, COL4A4, and COL4A5) and show specific changes to the glomerular basement membrane. Renal biopsy is an invasive method and might show only thinning of the glomerular basement membrane in both cases. Genetic screening for mutations in type IV collagen genes is non-invasive and could provide additional information useful for the diagnosis of X-linked, autosomal recessive, autosomal dominant AS and TBMN, although it may sometimes be difficult to interpret genetic data if there is a mutation in genes coding for the alpha 3 or alpha 4 collagen chain. We analysed COL4A3, COL4A4, and COL4A5 genes in 1411 patients from 57 unrelated families with suspected AS or TBMN. 13 different mutations were found in the COL4A5 gene in Alport syndrome suspected patients (G198E, G310R, G319D, G325R, G466E, G624D, G669D, G666D, G811R, K664N, 1234+5G>T, R226X and 3615-3616deIC); three mutations in the COL4A3 gene (G487C, G1015E, 3547insGGA) and four in COL4A4 3068+2T>G, 3497+1G>A. G774R), all in a heterozygous state, were identified only in a heterozygous state, were identified only in patients with benign familial hematuria. (Abstract truncated at 2000 characters)
Descriptors		NEPHRITIS, HEREDITARY HEMATURIA BIOPSY PROGNOSIS CHILD