A case of Non-compaction of Left Ventricle Coexistent with Juvenile Nephronophthisis. Is this Another Presentation of Ciliopathy?
Journal of Pediatric Nephrology,
Vol. 2 No. 1 (2014),
AbstractNephronophthisis is a chronic tubulo-interstitial nephritis which can progress to end-stage renal disease. Juvenile nephronophthisis is the most common type of nephronophthisis, which accounts for 5-10% of the cases of pediatric end stage renal diseases. Left ventricular non-compaction (LVNC), a rare form of cardiomyopathy, is the result of intrauterine arrest of compaction of the endomyocardial morphogenesis. Clinical manifestations of LVNC range from asymptomatic child to a progressive deterioration in the cardiac function, congestive heart failure, arrhythmias, systemic thromboembolism and sudden cardiac death. This report presents a case of juvenile nephronophthisis with LVNC. A 15-year-old boy was referred to our nephrology outpatient clinic with a 6-month history of non-specific complaints such as lethargy, anorexia, polydipsia, polyuria, and pallor. Abdominal sonography showed a generalized increase in the parenchymal echo of kidneys. Renal biopsy was performed for him which showed nephronophthisis. Echocardiography was done and revealed LVNC. He was discharged with training for careful follow-up. Our reported case had nephronophthisis and LVNC. To the best of our knowledge, there is no report of this combination in the literature. This suggests that LVNC may be another presentation of cilia involvement. The clinical coexistence of LVNC and nephronophthisis could guide us to better localize and discover the underlying genetic mutations and the role of ciliopathies in various human diseases; Therefore, further research with a special focus on potential common derangement of cilia and protein products in these diseases is recommended.
Keywords: Juvenile nephronophthisis; Isolated Noncompaction of the Ventricular Myocardium; Ciliary Motility Disorders
How to Cite
Hildebrand F, Attanasio M, Otto E. Nephronophthisis: Disease Mechanisms of a Ciliopathy. American Society of Nephrology 2009;20: 23–35.
Hildebrandt F: Juvenile nephronophthisis. In: Avner ED, Harmon WE, Niaudet P, Yoshikawa N, editors. Pediatric Nephrology. 6th ed. Berlin Heidelberg, Springer-Verlag 2009; P 831-844.
Ki Hoon K, Bong Gun S, Man Je P, Hyoun Soo L, Woo Jung C, Ju Hyeon O: Noncompaction of the Myocardium Coexistent with Bronchiectasis and Polycystic Kidney Disease, Heart, Lung and Circulation 2013;22:312–314.
Hildebrandt F, Otto E: Cilia and centrosomes: A unifying pathogenic concept for cystic kidney disease? Nature Reviews Genetics2005;6:928–930.
Ergul Y, Nisli K, Bilge AK, Dindar A: Aborted sudden cardiac death in a child with left ventricular non-compaction. Pediatr Int 2013 Jun;55(3):388-91.
Vatta M, Mohapatra B, Jimenez S: Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. Journal of the American College of Cardiology 2003;42(11):2014–27.
Captur G, Nihoyannopoulos P. Left ventricular noncompaction: genetic heterogeneity, diagnosis and clinical course. Int J Cardiol 2010;140:145–53.
Bhatia NL, Tajik AJ, Wilansky S, Steidley DE, Mookadam F. Isolated noncompaction of the left ventricular myocardium in adults: a systematic overview. J Card Fail 2011;17:771–8.
Kwiatkowski D, Hagenbuch S, Meyer R: A Teenager with Marfan Syndrome and Left Ventricular Noncompaction. Pediatr Cardiol 2010;31:132–135.
Mc Grath J, Somlo S, Makova S, Tian X, Brueckner M: Two populations of node monocilia initiate left-right asymmetry in the mouse. Cell 2003;114:61–73.
Ramineni R, Merla R, Chernobelsky A. Noncompaction of Ventricular Myocardium Associated With Hypertrophic Cardiomyopathy and Polycystic Kidney Disease. The American Journal of the Medical Sciences 2010;339(4):383-86.
Boulter C, Mulroy S, Webb S, Fleming S, Brindle K, Sandford R. Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene. Proc Natl Acad Sci U S A 2001;98:12174–9.
- Abstract Viewed: 271 times
- PDF Downloaded: 241 times