Ultrastructural Lesions of the Glomerular Basement Membrane in Laurence-Moon-Biedl-Bardet Syndrome (Lmbbs)

Price, D.; Gartner, J G; Kaplan, Bernard S.

doi:10.1203/00006450-198008000-00067

Cited by 11 publications

(13 citation statements)

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“…The few pathologic studies published in the literature agree with these findings. However, glomerular lesions characterized by thickening of the basement membrane seen on electron microscopy have also been reported (26,27). The ex- istence of an abnormal ACR in 31% of patients suggests associated glomerular disease, which could also be the consequences of long-term hypertension or diabetes.…”

Section: Discussionmentioning

confidence: 95%

Bardet-Biedl Syndrome

Imhoff

Marion

Stoetzel

et al. 2011

Clinical Journal of the American Society of Nephrology

109

106

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SummaryBackground and Objectives Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy with a wide spectrum of clinical features including obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, and renal abnormalities. The molecular genetic profile of BBS is currently being investigated after the recent identification of 14 BBS genes involved in primary cilia-linked disease. This study aims to characterize the renal and cardiovascular presentations and to analyze possible relationships between genotypes and clinical phenotypes. Design, setting, participants & measurementsThis clinical study was performed in a national cohort of 33 BBS patients, 22 men and 11 women, all aged Ͼ16 years (mean age 26.3 years).Results Renal abnormalities, including impairment of renal function and signs of chronic interstitial nephropathy of dysplastic nature, were documented in 82% of the patients. Cardiovascular evaluations revealed that this group of young patients had significant cardiovascular risk factors. Hypertension was found in Ͼ30% of the patients and hyperlipidemia in Ͼ60%, and almost 50% had other metabolic abnormalities. Overt diabetes was present in only 6%. With regard to genotype-phenotype correlation, patients with a mutation in the BBS6, BBS10, or BBS12 gene (10 of 33 patients) had more severe renal disease. ConclusionsOur study results confirm the frequent occurrence of renal involvement in patients with BBS, underscore the high risk of cardiovascular disease in these patients, and provide new information on a possible genotype-phenotype correlation.

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Section: Discussionmentioning

confidence: 95%

Bardet-Biedl Syndrome

Imhoff

Marion

Stoetzel

et al. 2011

Clinical Journal of the American Society of Nephrology

109

106

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“…1C), often containing dark granules. Segmen tal irregular thickening and thinning in association with accumulation of granular and fibrillary material within the inner third of the GBM has been reported as an early and possibly primary glomerular abnormality in patients with the Lawrence-Moon-Biedl-Bardet syndrome [223].…”

Section: Glomerular Basement Membranementioning

confidence: 99%

Renal Biopsy: Current Views and Controversies

Gault¹,

Muehrcke²

1983

Nephron

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“…Böbrek histolojisinde kronik interstisyel nefrit, mezengial proliferatif glomerülopati ve glomerüler bazal membranda yapısal değişiklikler görülmüştür. (11,12,13). Hastalar üriner sistem enfeksiyonu ve hipertansiyona özgü yakınmalar tarif ederler (14).…”

Section: Introductionunclassified