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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

Kidney biopsy (PAS stain) showing features suggestive of chronic interstitial nephritis
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Figure 4: Kidney biopsy (PAS stain) showing features suggestive of chronic interstitial nephritis

Mentions: Investigations revealed hemoglobin - 7.6 gm/dl, urea - 64 mg/dl, creatinine - 10.6 mg/dl, calcium - 7.0 mg/dl, inorganic phosphorus - 5.6 mg/dl, and serum albumin - 3.7 gm/l. Urine analysis revealed trace proteinuria with no active sediments. She had features of secondary hyperparathyroidism with serum alkaline phosphatase of 1157 U/l and intact PTH of 418.3 pg/ml. Her fasting and post prandial blood glucose were 57 and 87 mg/dl respectively. Ultrasound examination showed normal sized kidneys with increased echogenicity. Renal biopsy revealed interstitial fibrosis and tubular atrophy in 75% of the area examined suggestive of chronic interstitial nephritis [Figure 4].


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

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

Kidney biopsy (PAS stain) showing features suggestive of chronic interstitial nephritis
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 4: Kidney biopsy (PAS stain) showing features suggestive of chronic interstitial nephritis
Mentions: Investigations revealed hemoglobin - 7.6 gm/dl, urea - 64 mg/dl, creatinine - 10.6 mg/dl, calcium - 7.0 mg/dl, inorganic phosphorus - 5.6 mg/dl, and serum albumin - 3.7 gm/l. Urine analysis revealed trace proteinuria with no active sediments. She had features of secondary hyperparathyroidism with serum alkaline phosphatase of 1157 U/l and intact PTH of 418.3 pg/ml. Her fasting and post prandial blood glucose were 57 and 87 mg/dl respectively. Ultrasound examination showed normal sized kidneys with increased echogenicity. Renal biopsy revealed interstitial fibrosis and tubular atrophy in 75% of the area examined suggestive of chronic interstitial nephritis [Figure 4].

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