Childhood obesity: are genetic differences involved? (73/151)

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Continuous ambulatory peritoneal dialysis for a patient with Bardet-Biedl syndrome. (74/151)

Bardet-Biedl syndrome (BBS) is a multisystem syndrome with a range of primary and secondary features. Kidney abnormalities are a major cause of morbidity and mortality in BBS and it is a significant genetic cause of chronic kidney disease in children. Conventional approach to end-stage renal disease in these patients is hemodialysis and kidney transplantation afterwards. Continuous ambulatory peritoneal dialysis, however, is not a commonly advocated modality in literature. In this report, we present a boy with BBS who underwent continuous ambulatory peritoneal dialysis, which resulted in control of kidney function impairment and better compliance for his family than hemodialysis before kidney transplantation. Of note, this is a rare case of BBS complicated with end-stage renal disease in the first decade of life.  (+info)

Bardet-biedl syndrome in a child with chronic kidney disease. (75/151)

A 4-year old boy was referred for evaluation of renal failure, posterior urethral valve (PUV) and urinary tract infection. His parents added complaints of polyuria, polydipsia, enuresis, shortness of stature, and inappropriate obesity. Serum blood urea nitrogen and creatinine levels were 45 and 3.5 mg/dL, respectively. Urine culture was positive for Pseudomonas aeruginosa, and abdominal ultrasound revealed bilateral small kidneys. The patient's history included mild to moderate mental retardation and postaxial polydactyly of both lower limbs amputated two years ago. The combination of mental retardation, obesity, postaxial polydactyly, and bilateral renal hypoplasia were compatible with the diagnosis Bardet-Biedl syndrome (BBS). The combination of PUV and BBS is a rare condition that caused this early onset of renal failure and inappropriate obesity guided us to the diagnosis.  (+info)

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. (76/151)

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Can faulty antennae increase adiposity? The link between cilia proteins and obesity. (77/151)

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The primary cilium as a cellular signaling center: lessons from disease. (78/151)

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Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. (79/151)

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Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review. (80/151)

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