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Kronik böbrek yetmezliği ile başvuran Bardet Biedl sendromlu bir olgu

Yıl 2012, Cilt: 34 Sayı: 4, 491 - 494, 21.12.2012

Serhan Pişkinpaşa , Hadim Akoğlu Ezgi Çoşkun Yenigün , Eyüp Koç Didem Turgut İpek Gönül Fatih Dede

Öz

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

Anahtar Kelimeler

-

Kaynakça

  • 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.
  • Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, Heath O, McManamon PJ, O'Leary E, Pryse-Phillips W. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 1989; 321: 1002-9.
  • Baskın E, Balkancı F, Cekirge S, Şener C, Saatçi U. Renal vascular abnormalities in Bardet-Biedl syndrome. Pediatr Nephrol 1999; 13: 787-9.
  • Gourdol O, David L, Colon S, Bouvier R, Ayral A, Aguercif M, François R. Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome. Apropos of 3 cases. Pediatrie 1984; 39: 175-81.
  • Hurley RM, Dery P, Norady MB, Drummond KN. The renal lesion of the Laurence-Moon-Biedl syndrome. J Pediatr 1975; 87: 206-9.
  • Churchill DN, McManamon P, Hurley RM. Renal disease-a sixth cardinal feature of the Laurence-Moon-Biedl syndrome. Clin Nephrol 1981; 16: 151-4.
  • Uçar B, Yakut A, Kural N, Büyükaşık F, Vardareli E. Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome: report of five cases. Pediatr Nephrol 1997; 11: 31-5.
  • Balal M, Paydaş S, Karayaylalı İ, Seyrek N. İnsülin Bağımlı Diabetes Mellitus’lu ve Böbrek Yetersizliği Olan LMB Sendromu. Türk Nefroloji ve Transplantasyon Dergisi 2004; 13: 177-9.
  • Köksal Ş, Dede F, Yenigün E, Pişkinpaşa S, Akoğlu H, Öztürk R, Koç E, Odabaş AR. Kronik Böbrek Yetmezliğinin Nadir Bir Sebebi: Bardet Biedl Sendromu. Klinik Seriler, Nefroloji, Diyaliz ve Hipertansiyon 2009; 3: 5-7.
  • Sharifian M, Dadkhah-Chimeh M, Einollahi B, Nafar M, Simforoush N, Basiri A, Otukesh H. Renal transplantation in patients with Bardet-Biedl syndrome. Arch Iran Med 2007; 10: 339-42.
  • Langer RM, Földes K, Szalay L, Járay J. Laurence-Moon-Bardet-Biedl syndrome for kidney transplantation at the age of 57 years. Transplant Proc 2005; 37: 4223- 4.

Kronik böbrek yetmezliği ile başvuran Bardet Biedl sendromlu bir olgu

Yıl 2012, Cilt: 34 Sayı: 4, 491 - 494, 21.12.2012

Serhan Pişkinpaşa , Hadim Akoğlu Ezgi Çoşkun Yenigün , Eyüp Koç Didem Turgut İpek Gönül Fatih Dede

Öz

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 Kelimeler

Bardet-Biedl sendromu obezite mental retardasyon hipertansiyon kronik böbrek hastalığı

Kaynakça

  • 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.
  • Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, Heath O, McManamon PJ, O'Leary E, Pryse-Phillips W. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 1989; 321: 1002-9.
  • Baskın E, Balkancı F, Cekirge S, Şener C, Saatçi U. Renal vascular abnormalities in Bardet-Biedl syndrome. Pediatr Nephrol 1999; 13: 787-9.
  • Gourdol O, David L, Colon S, Bouvier R, Ayral A, Aguercif M, François R. Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome. Apropos of 3 cases. Pediatrie 1984; 39: 175-81.
  • Hurley RM, Dery P, Norady MB, Drummond KN. The renal lesion of the Laurence-Moon-Biedl syndrome. J Pediatr 1975; 87: 206-9.
  • Churchill DN, McManamon P, Hurley RM. Renal disease-a sixth cardinal feature of the Laurence-Moon-Biedl syndrome. Clin Nephrol 1981; 16: 151-4.
  • Uçar B, Yakut A, Kural N, Büyükaşık F, Vardareli E. Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome: report of five cases. Pediatr Nephrol 1997; 11: 31-5.
  • Balal M, Paydaş S, Karayaylalı İ, Seyrek N. İnsülin Bağımlı Diabetes Mellitus’lu ve Böbrek Yetersizliği Olan LMB Sendromu. Türk Nefroloji ve Transplantasyon Dergisi 2004; 13: 177-9.
  • Köksal Ş, Dede F, Yenigün E, Pişkinpaşa S, Akoğlu H, Öztürk R, Koç E, Odabaş AR. Kronik Böbrek Yetmezliğinin Nadir Bir Sebebi: Bardet Biedl Sendromu. Klinik Seriler, Nefroloji, Diyaliz ve Hipertansiyon 2009; 3: 5-7.
  • Sharifian M, Dadkhah-Chimeh M, Einollahi B, Nafar M, Simforoush N, Basiri A, Otukesh H. Renal transplantation in patients with Bardet-Biedl syndrome. Arch Iran Med 2007; 10: 339-42.
  • Langer RM, Földes K, Szalay L, Járay J. Laurence-Moon-Bardet-Biedl syndrome for kidney transplantation at the age of 57 years. Transplant Proc 2005; 37: 4223- 4.
Toplam 18 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Bölüm Olgu Sunumları
Yazarlar

Serhan Pişkinpaşa

Hadim Akoğlu

Ezgi Çoşkun Yenigün

Eyüp Koç

Didem Turgut

İpek Gönül

Fatih Dede

Yayımlanma Tarihi 21 Aralık 2012
Yayımlandığı Sayı Yıl 2012Cilt: 34 Sayı: 4

Kaynak Göster

AMA Pişkinpaşa S, Akoğlu H, Çoşkun Yenigün E, Koç E, Turgut D, Gönül İ, Dede F. Kronik böbrek yetmezliği ile başvuran Bardet Biedl sendromlu bir olgu. CMJ. Aralık 2012;34(4):491-494.