Original articleThe renal lesion of the Laurence-Moon-Biedl syndrome*
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Cited by (51)
Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis
2016, Journal of HepatologyCitation Excerpt :Whilst no specific liver phenotype-genotype correlations were found in the patients studied, hepatic portal fibrosis and bile duct proliferation were documented in Dcdc2 knockout mice; in addition, interaction between DCDC2 and Wnt signalling was confirmed in IMCD3 and NIH3T3 cell culture, as was localisation of DCDC2 in the ciliary axoneme and mitotic spindle fibres [16]. Hepatorenal fibrocystic diseases, commonly known as ciliopathies, include autosomal dominant and -recessive polycystic kidney diseases [40,41] and Joubert [42], Jeune [43], Bardet-Biedl [44], Meckel-Gruber [45], and oro-facial-digital syndromes [46]. Liver manifestations have been described in congenital hepatic fibrosis, Caroli disease, Jeune and Caroli syndromes [43,47,48], and polycystic liver disease [49], with gene mutations confirmed in a proportion of affected patients [50].
Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene
2012, Vision ResearchCitation Excerpt :As the role of the BBS genes in ciliary function, including that of the respiratory trait, becomes increasingly understood (Shah et al., 2008), asthma and other respiratory manifestations may become an increasingly appreciated manifestation of BBS, and of BBS1 in particular. Only PT1 had documented urinary tract problems (incontinence and recurrent infections) but none had evidence of kidney abnormalities, which are instead considered fairly typical for BBS (Anadoliiska & Roussinov, 1993; Campo & Aaberg, 1982; Churchill, McManamon, & Hurley, 1981; Green et al., 1989; Hurley et al., 1975; Iannaccone et al., 1997; O’Dea et al., 1996; Ozer et al., 1995; Perez Perez & Barrio, 1998). The proportion of our patients with urinary tract problems (one in three cases) is comparable to the prevalence noted by Deveault et al. (2011), who found ultrasonography-demonstrated kidney abnormalities in 38% of their BBS1 patients, and by Azari et al. (2006), who reported renal problems in 30% of their BBS1 patients.
Retinitis Pigmentosa and Allied Disorders
2012, Retina Fifth EditionRetinitis Pigmentosa and Allied Disorders
2005, Retina: Fourth EditionTransplantation issues in pediatric retinal-renal syndromes
1998, Transplantation ProceedingsThe importance of renal impairment in the natural history of Bardet-Biedl syndrome
1996, American Journal of Kidney Diseases
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Supported in part by M.R.C. term grant number MT-1579
Presented in part at the annual meeting of the Society for Pediatric Research, May, 1973, and at “Diagnostic Problems in Renal Biopsy” American Society of Nephrology, November 1973.
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Dr. Hurley was the recipient of a fellowship from the Medical Research of Canada