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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Hildebrandt F, Attanasio M, Otto E (2009) Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol 20(1):23–35. https://doi.org/10.1681/ASN.2008050456
Braun DA, Hildebrandt F (2017) Ciliopathies. Cold Spring Harb Perspect Biol 9(3):1. https://doi.org/10.1101/cshperspect.a028191
Aragona P, Badano LP, Pacileo G, Pino GP, Sinagra G, Zachara E (2005) Isolated left ventricular non-compaction. Ital Heart J Suppl 6(10):649–659
van Waning JI, Caliskan K, Hoedemaekers YM et al (2018) Genetics, clinical features, and long-term outcome of noncompaction cardiomyopathy. J Am Coll Cardiol 71(7):711–722. https://doi.org/10.1016/j.jacc.2017.12.019
Towbin JA, Jefferies JL (2017) Cardiomyopathies due to left ventricular noncompaction, mitochondrial and storage diseases, and inborn errors of metabolism. Circ Res 121(7):838–854. https://doi.org/10.1161/CIRCRESAHA.117.310987
Durdik P, Banovcin P (2015) Primary cilliary dyskinesia—current therapeutic approach. Advances in respiratory therapy research. Nova Science Publication, New York, pp 157–176
Joskova M, Sutovska M, Durdik P, Koniar D, Hargas L, Banovcin P, Hrianka M, Khazaei V, Pappova L, Franova S (2016) The role of ion channels to regulate airway ciliary beat frequency during allergic inflammation. Adv Exp Med Biol 921:27–35. https://doi.org/10.1007/5584_2016_247
Rajasekharreddy P, Jamal Maha, Alshammari O, Nauli SM (2018) The roles of primarycilia in cardiovascular diseases. Cells 7(12):233. https://doi.org/10.3390/cells7120233
Momtaz HE, Tanasan A, Afkhami M (2014) A case of non-compaction of left ventricle coexistent with juvenile nephronophthisis. Is this another presentation of ciliopathy? J Ped Nephrology 2(1):46–49
Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, Carey C, Macdermott S, Russell-Eggitt I, Shea SE, Davis J, Beck S, Shatirishvili G, Mihai CM, Hoeltzenbein M, Pozzan GB, Hopkinson I, Sicolo N, Naggert JK, Nishina PM (2005) New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med 165(6):675–683. https://doi.org/10.1001/archinte.165.6.675
Driscoll JA, Bhalla S, Liapis H, Ibricevic A, Brody SL (2008) Autosomal dominant polycystic kidney disease is associated with an increased prevalence of radiographic bronchiectasis. Chest 133:1181–1188. https://doi.org/10.1378/chest.07-2147
Kierszenbaum AL (2004) Polycystins: what polycystic kidney disease tells us about sperm. Mol Reprod Dev 67(4):385–388. https://doi.org/10.1002/mrd.20042
Chebib FT, Hogan MC, El-Zoghby ZM, Irazabal MV, Senum SR, Heyer CHM, Madsen CHD, Gall EC, Behfar A, Harris PC, Torres VE (2017) Autosomal dominant polycystic kidney patients may be predisposed to various cardiomyopathies. Kidney Int Rep 2(5):913–923. https://doi.org/10.1016/j.ekir.2017.05.014
Fukino K, Ishiwata J, Shinohara H, Oshima T, Kozaki T, Ikutomi M, Amaki T, Nakamura F (2016) Noncompaction of the ventricular myocardium and polycystic kidney disease: a case report. Am J Kidney 67(6):945–948. https://doi.org/10.1053/j.ajkd.2015.12.031
Ki Hoon K, Bong Gun S, Man Je P, Hyoun Soo L, Woo Jung C, Ju Hyeon O (2013) Noncompaction of the myocardium coexistent with bronchiectasis and polycystic kidney disease. Heart Lung Circ 22:312–314. https://doi.org/10.1016/j.hlc.2012.07.052
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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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
- Left ventricular non-compaction cardiomyopathy