Renal failure due to Bardet-Biedl syndrome: A case report

Medical Principles and Practice

Volumn 13, Issue 6, 2004, Pages 380-382

  Ulusoy, Sukru ^a,b   Kaynar, Kubra ^a   Gul, Semih ^a   Ukinc, Kubilay ^a  

^a KARADENIZ TECHNICAL UNIVERSITY   (Turkey)

^b KARADENIZ TECHNICAL UNIVERSITY   (Turkey)

Author keywords

Bardet Biedl syndrome; Hemodialysis; Renal failure

Indexed keywords

SEX HORMONE; VANCOMYCIN;

ADULT; ANAMNESIS; ARTICLE; BACTERIUM CULTURE; BARDET BIEDL SYNDROME; BLOOD SMEAR; BODY MASS; CASE REPORT; CLINICAL FEATURE; CORRELATION ANALYSIS; CREATININE CLEARANCE; DISEASE ASSOCIATION; EMERGENCY HEALTH SERVICE; FEMALE; HEMATOLOGY; HEMODIALYSIS; HUMAN; KIDNEY FAILURE; MEDICAL ASSESSMENT; METABOLIC ACIDOSIS; NULLIPARA; NYSTAGMUS; OBESITY; OPHTHALMOSCOPY; PHYSICAL EXAMINATION; POLYDACTYLY; RETINITIS PIGMENTOSA; STAPHYLOCOCCUS AUREUS; STRABISMUS; THROMBOCYTE COUNT; THYROID HORMONE BLOOD LEVEL; TREATMENT OUTCOME; UREMIA; URINARY TRACT INFECTION;

BARDET-BIEDL SYNDROME; FEMALE; HUMANS; KIDNEY FAILURE, CHRONIC; MIDDLE AGED; RENAL DIALYSIS;

EID: 5644227333     PISSN: 10117571     EISSN: None     Source Type: Journal    
DOI: 10.1159/000080479     Document Type: Article

References (16)

1. Moses G, Howard C, Bar-Ziv J, Dekel S, Nyska M: Epiphyseal dysgenesis in Laurence-Moon-Biedl-Bardet syndrome. J Pediatr Orthop B 1998;7:193-198.
2. 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;321:1002-1009.
3. Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA: Bardet-Biedl syndrome: A molecular and phenotypic study of 18 families. J Med Genet 1997;34:92-98.
4. Young TL, Penney L, Woods MO, Parfrey PS, Green JS, Hefferton D, Davidson WS: A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31. Am J Hum Genet 1999;64:900-904.
5. Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, Woods MO, Green JS, Parfrey PS, Davidson WS, Lupski JR: Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. Am J Hum Genet 2001;68:606-616.
6. Runge P, Calver D, Marshall J, Taylor D: Histopathology of mitochondrial cytopathy and the Laurence-Moon-Biedl syndrome. Br J Ophthalmol 1986;70:782-796.
7. Kobrin JL, Ternand CL, Knobloch WH, Johnson DD: Dental abnormalities as a component of the Laurence-Moon-Bardet-Biedl syndrome. Ophthalmic Paediatr Genet 1990;11:299-303.
8. Urben SL, Baugh RF: Otolaryngologic features of Laurence-Moon-Bardet- Biedl syndrome. Otolaryngol Head Neck Surg 1999;120:571-574.
9. 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;319:615-618.
10. Price D, Gartner JG, Kaplan BS: Ultrastructural changes in the glomerular basement membrane of patients with Laurence-Moon-Biedl-Bardet syndrome. Clin Nephrol 1981;16:283-288.
11. Riise R: The cause of death in Laurence-Moon-Bardet-Biedl syndrome. Acta Ophthalmol Scand Suppl 1996;219:45-47.
12. Collins CM, Mendoza SA, Grisworld WR, Tanney D, Lieberman E, Reznik VM: Pediatric renal transplantation in Laurence-Moon-Biedl syndrome. Pediatr Nephrol 1994;8:221-222.
13. Roussel B, Leroux B, Gaillard D, Fandre M: Laurence-Moon-Bardet-Biedl syndrome, chronic diffuse tubulo-interstitial nephritis and liver involvement. Helv Paediatr Acta 1985;40:405-413.
14. Gershoni-Baruch R, Nachlieli T, Leibo R, Degani S, Weissman I: Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet-Biedl syndrome. Am J Med Genet 1992;44:269-273.
15. Ritchie G, Jequier S, Lussier-Lazaroff J: Prenatal renal ultrasound of Laurence-Moon-Biedl syndrome. Pediatr Radiol 1988;19:65-66.
16. 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;27:776-783.