Kronik böbrek yetmezliği ile başvuran Bardet Biedl sendromlu bir olgu
Abstract
Özet
Bardet-Biedl Sendromu obezite, retinal distrofi, dismorfik ekstremiteler, mental retardasyon, endokrinolojik ve renal anormallikler ile karakterize, otozomal resesif geçişli nadir görülen bir hastalıktır. Renal tutulum hastalığın major tanı kriterlerinden olup; kronik böbrek hastalığı bu sendromda görülen en sık ölüm nedenidir. Bu nedenle, renal hasarın erken teşhisi prognostik öneme sahiptir. Bu yazıda, nadir gözlenen Bardet-Biedl sendromuna eşlik eden kronik böbrek hastalığı ve konuyla ilgili literatür gözden geçirildi.
Anahtar sözcükler: Bardet-Biedl sendromu, obezite, mental retardasyon, hipertansiyon, kronik böbrek hastalığı
Abstract
Bardet-Biedl syndrome is a rare autosomal recessive disease characterized by obesity, retinal dystrophy, dysmorphic extremities, mental retardation, endocrine and renal abnormalities. Renal involvement is recognized as a cardinal feature. Chronic kidney disease is major cause of mortality in Bardet-Biedl syndrome. In this report, we discussed a patient presenting with chronic kidney disease and Bardet-Biedl syndrome due to its rarity in the aspect of the literature.
Keywords: Bardet-Biedl syndrome, obesity, mental retardation, hypertension, chronic kidney disease
Keywords
References
- Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey. J Med Genet 1999; 36: 437-46.
- O'Dea D, Parfrey PS, Harnett JD, Hefferton D, Cramer BC, Green J. The importance of renal impairment in the natural history of Bardet-Biedl syndrome. Am J Kidney Dis 1996; 27: 776-83.
- Putoux A, Attie-Bitach T, Martinovic J, Gubler MC. Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney. Pediatr Nephrol 2012; 27: 7-15.
- Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, Kennedy D, Jacobson SG, Innes AM, Mitchell GA, Boycott K, Héon E.BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat 2011; 32: 610-9.
- Tobin JL, Beales PL. Bardet-Biedl syndrome: beyond the cilium. Pediatr Nephrol 2007; 22: 926-36.
- Harnett JD, Green JS, Cramer BC, Johnson G, Chafe L, McManamon P, Farid NR, Pryse-Phillips W, Parfrey PS. The spectrum of renal disease in Laurence- Moon-Biedl syndrome. N Engl J Med 1988; 319: 615-8.
- Elbedour K, Zucker N, Zalzstein E, Barki Y, Carmi R. Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients. Am J Med Genet 1994; 15; 52: 164-9.
- Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, Stefanelli M, Murphy C, Cramer BC, Dean JC, Beales PL, Katsanis N, Bassett AS, Davidson WS, Parfrey PS. Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A 2005; 132: 352-60.
Details
Primary Language
English
Subjects
-
Journal Section
-
Authors
Hadim Akoğlu
Eyüp Koç
Didem Turgut
İpek Gönül
Fatih Dede
Publication Date
December 21, 2012
Submission Date
October 7, 2011
Acceptance Date
-
Published in Issue
Year 2012 Volume: 34 Number: 4