Nephronophthisis type I, left ventricular non-compaction cardiomyopathy and reduced cilia motility-atypical manifestations of one disease.

摘要: Nephronophthisis, an autosomal recessive cystic kidney disease, represents genetically heterogenous group of diseases that lead to end-stage disease in children and young adults. The typical clinical manifestations are polyuria, enuresis growth failure. Left ventricular non-compaction cardiomyopathy is a rare form cardiomyopathy, determined by the disturbance embryogenesis endocardium myocardium. Primary ciliary dyskinesia heterogeneous disorder motile cilia characterised chronic lung nonpulmonary manifestations, usually situs inversus. Almost no information available literature about association between nephronophthisis, left reduced motility. authors present case 17 year-old girl with non-specific nodules disease. A genetic examination confirmed only diagnosis nephronophthisis type I. Cardiac magnetic resonance imaging cardiomyopathy. Cilia motility was nasal mucosa samples. Are all part one disease? This report points variety ciliopathy aims understand individual relationships.