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

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

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We would like to thank Krsiakova Jana MB, PhD.at M-Genetic, in Martin, Slovakia for genetic analysis. Durina Pavol MB at Institute of Medical Biology, Genetic and Clinical Genetic, Faculty of Medicine, Comenius University in Bratislava, Slovakia, for genetic analysis. Machalekova Katarina, MD, Ph.D. at Institute of Pathology, St. Elisabeth Cancer Institute, in Bratislava, Slovakia for renal biopsy analysis.

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Correspondence to Zuzana Havlicekova.

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Brndiarova, M., Antonyova, M., Dedinska, I. et al. Nephronophthisis type I, left ventricular non-compaction cardiomyopathy and reduced cilia motility-atypical manifestations of one disease. J Nephrol 33, 183–186 (2020). https://doi.org/10.1007/s40620-019-00651-w

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  • Nephronophthisis
  • Left ventricular non-compaction cardiomyopathy
  • Cilia