M. Močnik
Klinika za pediatrijo, Univerzitetni klinični center Maribor, Maribor, Slovenija

D. Glavač
Inštitut za patologijo, Oddelek za molekularno genetiko, Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija

R. Ekart
Oddelek za dializo, Klinika za interno medicino, Univerzitetni klinični center Maribor, Maribor, Slovenija

S. Bevc
Oddelek za nefrologijo, Klinika za interno medicino, Univerzitetni klinični center Maribor, Maribor, Slovenija

N. Marčun Varda
Klinika za pediatrijo, Univerzitetni klinični center Maribor, Maribor, Slovenija

Abstract

Alport syndrome is a genetically heterogeneous disorder of collagen IV, which is the major component of the glomerular basal membrane and the basal membrane in the cochlea and the eye. Therefore, it affects the kidneys, hearing and vision. Mutations in the COL4A3, COL4A4 and COL4A5 genes are responsible for the disorder. The clinical picture depends on the mutation. The most commonly affected gene is COL4A5, which is inherited in an X-linked pattern. Consequently, men are more affected, although women can also be affected to a certain degree. In mutations in other genes, the inheritance pattern is autosomal, therefore it is distributed equally between the sexes. The diagnosis is suspected on the basis of the clinical picture and positive family history and confirmed by the kidney biopsy or genetic testing. There is no known specific therapy; the kidney disease is life-threatening and must be treated by supportive measures and renal replacement therapy. Other problems are mitigated by hearing or visual aids. In this article, we present a family with Alport syndrome, in which the disease has been diagnosed in three generations. We present their course, current state of the disease, genetics and family tree.

Key words: Alport syndrome, genetics, kidney disease, children, family.