Lowe syndrome: case report
Abstract
Lowe syndrome is a rare X-linked multisystemic disorder, caused by mutation of the OCRL gene which encodes OCRL-1 protein. The disease is characterized by the triad of congenital cataracts, intellectual disability, and Fanconi-like proximal renal tubular dysfunction. Lifespan is short due to end-stage renal disease and other earlier complications and it rarely exceeds 40 years. The treatment is symptomatic, aimed at improving the clinical evolution of the patients and postpone the onset of terminal renal disease. The paper describes a case of a boy with Lowe syndrome with a novel genetic mutation.
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References
Bökenkamp A, Ludwig M. The oculocerebrorenal syndrome of Lowe: an update. Pediatric Nephrology. 2016;31(12):2201–12.
Recker F, Zaniew M, Böckenhauer D, Miglietti N, Bökenkamp A, Moczulska A, et al. Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome. Pediatric Nephrology. 2014;30(6):931–43.
Sugimoto K, Nishi H, Miyazawa T, Fujita S, Okada M, Takemura T. A Novel OCRL1 Mutation in a Patient with the Mild Phenotype of Lowe Syndrome. The Tohoku Journal of Experimental Medicine. 2014;232(3):163–6.
Lewis RA, Nussbaum RL, Brewer ED. Lowe Syndrome. Seattle: GeneReviews; 2012. [cited 2016 Aug 9] Available from: http://www.ncbi.nlm.nih.gov/books/NBK1480/.
Al-Uzri A, Steiner RD, Wasserstein MP, Fenton CL. Oculocerebrorenal Dystrophy (Lowe Syndrome). Medscape; 2014. [cited 2017 Jan 6] Available from: http://emedicine.medscape.com/article/946043-overview#a4.
Butani L. Hydrochlorothiazide reduces urinary calcium excretion in a child with Lowe syndrome. Clinical Kidney Journal. 2015;8(4):459–61.
Bockenhauer D, Bokenkamp A, van't Hoff W, Levtchenko E, Kist-van Holthe JE, Tasic V, et al. Renal Phenotype in Lowe Syndrome: A Selective Proximal Tubular Dysfunction. Clinical Journal of the American Society of Nephrology. 2008;3(5):1430–6.
Zaniew M, Bökenkamp A, Kołbuc M, La Scola C, Baronio F, Niemirska A, et al. Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort. Nephrology Dialysis Transplantation. 2016;0:1-11.
Mattoo TK. Etiology and clinical manifestations of renal tubular acidosis in infants and children. UpToDate; 2016. [cited 2017 Jan 6] Available from: http://www.uptodate.com/contents/etiology-and-clinical-manifestations-of-renal-tubular-acidosis-in-infants-and-children?source=search_result&search=lowe+syndrome&selectedTitle=1 %7E10.
Kleta R. Fanconi or not Fanconi? Lowe Syndrome Revisited. Clinical Journal of the American Society of Nephrology. 2008;3(5):1244–5.
Haque SK, Ariceta G, Batlle D. Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies. Nephrology Dialysis Transplantation. 2012;27(12):4273–87.
Emmett M, Palmer BF. Etiology and diagnosis of distal (type 1) and proximal (type 2) renal tubular acidosis. UpToDate; 2016. [cited 2017 Jan 6] Available from: http://www.uptodate.com/contents/etiology-and-diagnosis-of-distal-type-1-and-proximal-type- 2-renal-tubular- acidosis?source=search_result&search=fanconi+syndrome&selectedTitle=1~146.
De Almeida Maia ML, Dautro Moreira do Val ML, Penteado Genzani C, Alves Thomaz Fernandes F, De Andrade MC, De Abreu Carvalhaes JT. Lowe syndrome: report of five cases. J. Bras. Nefrol. 2010;32(2):216–21.
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