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Bardet-Biedl syndrome: A rare cause of end stage renal disease.

Hemachandar R - Int J Appl Basic Med Res (2015 Jan-Apr)

Bottom Line: Bardet-Biedl syndrome is a rare autosomal recessive disorder, recently categorized as ciliopathy characterized by dysfunction of primary cilia which results in myriad manifestations in various organ systems.Though renal abnormalities can occur in this syndrome, renal failure is a rare presentation.The author reports a case of 18-year-old female who presented with polydactyly, obesity, retinitis pigmentosa, learning disability and renal failure.

View Article: PubMed Central - PubMed

Affiliation: Department of Nephrology, Mahatma Gandhi Medical College and Research Institute, Pillaiyarkuppam, Puducherry, India.

ABSTRACT
Bardet-Biedl syndrome is a rare autosomal recessive disorder, recently categorized as ciliopathy characterized by dysfunction of primary cilia which results in myriad manifestations in various organ systems. Though renal abnormalities can occur in this syndrome, renal failure is a rare presentation. The author reports a case of 18-year-old female who presented with polydactyly, obesity, retinitis pigmentosa, learning disability and renal failure.

No MeSH data available.


Related in: MedlinePlus

Fundus picture showing retinitis pigmentosa
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Figure 3: Fundus picture showing retinitis pigmentosa

Mentions: On examination, her height and weight were 136 cm (<10th centile) and 58 kg respectively with a body mass index of 31.4 kg/m2. She had pallor with bilateral pitting pedal edema. Physical examination was notable for the absence of secondary sexual characters in the form of absence of axillary, pubic hair, and poor breast bud development. She had post axial polydactyly in both her legs, central polydactyly in her right hand and clinodactyly of left little finger [Figures 1 and 2]. Genital examination was normal. Her visual acuity was decreased to counting fingers at 1 m in both the eyes. Ophthalmic examination revealed features of retinitis pigmentosa [Figure 3]. Her psychological evaluation showed an IQ of 70.


Bardet-Biedl syndrome: A rare cause of end stage renal disease.

Hemachandar R - Int J Appl Basic Med Res (2015 Jan-Apr)

Fundus picture showing retinitis pigmentosa
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4318109&req=5

Figure 3: Fundus picture showing retinitis pigmentosa
Mentions: On examination, her height and weight were 136 cm (<10th centile) and 58 kg respectively with a body mass index of 31.4 kg/m2. She had pallor with bilateral pitting pedal edema. Physical examination was notable for the absence of secondary sexual characters in the form of absence of axillary, pubic hair, and poor breast bud development. She had post axial polydactyly in both her legs, central polydactyly in her right hand and clinodactyly of left little finger [Figures 1 and 2]. Genital examination was normal. Her visual acuity was decreased to counting fingers at 1 m in both the eyes. Ophthalmic examination revealed features of retinitis pigmentosa [Figure 3]. Her psychological evaluation showed an IQ of 70.

Bottom Line: Bardet-Biedl syndrome is a rare autosomal recessive disorder, recently categorized as ciliopathy characterized by dysfunction of primary cilia which results in myriad manifestations in various organ systems.Though renal abnormalities can occur in this syndrome, renal failure is a rare presentation.The author reports a case of 18-year-old female who presented with polydactyly, obesity, retinitis pigmentosa, learning disability and renal failure.

View Article: PubMed Central - PubMed

Affiliation: Department of Nephrology, Mahatma Gandhi Medical College and Research Institute, Pillaiyarkuppam, Puducherry, India.

ABSTRACT
Bardet-Biedl syndrome is a rare autosomal recessive disorder, recently categorized as ciliopathy characterized by dysfunction of primary cilia which results in myriad manifestations in various organ systems. Though renal abnormalities can occur in this syndrome, renal failure is a rare presentation. The author reports a case of 18-year-old female who presented with polydactyly, obesity, retinitis pigmentosa, learning disability and renal failure.

No MeSH data available.


Related in: MedlinePlus