Open AccessNephronophthisis and medullary cystic kidney disease complex
Author(s) -
Marijana Stanisic,
R Hrvacević,
Zoran Paunić,
Stanko Petrović
Publication year - 2005
Publication title -
vojnosanitetski pregled
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.123
H-Index - 19
eISSN - 2406-0720
pISSN - 0042-8450
DOI - 10.2298/vsp0509683s
Subject(s) - nephronophthisis , cystic kidney disease , medicine , medullary cavity , kidney , pathology , biology , genetics , gene , phenotype
Nephronophthisis and medullary cystic kidney disease complex refers to the genetic heterogeneous group of inherited tubulointerstital nephritis. Nephronophthisis comprises at last 3 clinical manifestations, has the autosomal recessive pattern of inheritance, appears early in life and is the most frequent inherited kidney disease that causes terminal renal failure in childhood, while medullary cystic kidney disease has the autosomal dominant pattern of inheritance, is less frequent, and terminal renal failure appears later in life. These two forms have similar clinical and morphological findings but extrarenal manifestations, the median ages of occurence of terminal renal failure, and siblings presence help us distinguish these diseases.