Author/Editor		Gregorič, Alojz; Marčun-Varda, Nataša
Title		Klinička genetika u pedijatrijskoj nefrologiji i osobni rezultati
Type		članek
Source		Paediatr Croat Suppl
Vol. and No.		Letnik 52, št. 1
Publication year		2008
Volume		str. 191-7
Language		ser
Abstract		A brief overwiew of currently used genetic tests, prenatal and pre-symptomatic diagnostics, genetic counseling and treatment of hereditary renal disorders is given. Two major approaches to the molecular diagnosis are discussed: indirect diagnosis through linkage with DNA polymorhphisms and direct diagnosis of the disease - causing mutations. The use of antenatal diagnosis has increased significantly in the past decade. Amniocentesis, chorionic villus sampling and pre-implantation genetic diagnosis are described. Pre-symptomatic testing for late - oncet disorders should not be performed in healthy children, unless when an early diagnosis would improve the outcome of the disease. Genetic counseling of hereditary renal disorders is performed like as in other hereditary diseases. Confidence of informations, the patients free will and individual treating are essential. Supportive conservative therapies remain the mainstay of treatment for many hereditary renal disorders. There are, howewer, a number of hereditary diseases where specific treatment modalities improve outcome (cystinuria, nephrogenic diabetes insipidus, Fabrys disease etc.). For the present gene therapy remains a great experimental challenge. In the table 1 some more known single - gene renal disorders and syndromes with mainly renal abnormalities for which genetic testing is available is shown. At the end of the article the results of genetic analysis od some our patients with rare inherited renal diseases (and vesicoureteric reflux) are discussed.
Descriptors		KIDNEY DISEASES KIDNEY DISEASES GENETIC COUNSELING PEDIATRICS DIAGNOSIS