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Pediatric Nephrology

, Volume 11, Issue 1, pp 31–35 | Cite as

Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome: report of five cases

  • Birsen Uçar
  • Ayten Yakut
  • Nurdan Kural
  • Ferit Büyükaşık
  • Erkan Vardareli
Original article

Abstract

.We report five patients with Laurence-Moon-Bardet-Biedl syndrome (LMBBS) who had renal involvement. Intravenous pyelography showed bilateral or unilateral calyceal clubbing and blunting in all patients. In addition, one patient had a parapelvic cyst in the left kidney and another had bilateral lobulated renal outlines of the fetal type. One patient had a urinary concentrating defect and two patients showed increased fractional sodium excretion. Estimated tubular phosphate reabsorption values were in normal limits in all of five patients. No patient had a urine acidification defect, proteinuria, glycosuria, or hyperaminoaciduria. One patient died from end-stage renal failure. The remaining four patients had normal serum creatinine values and estimated creatinine clearances. 99mTechnetium-diethylenetriamine pentaacetate renal scanning showed prolonged and delayed concentration and delayed excretion in three of the four patients who survived. A focal scar was determined on the left kidney of one of four patients by 99mtechnetium-dimercaptosuccinic acid renal scanning. All LMBBS cases with or without renal symptoms should be routinely evaluated for renal abnormalities. Renal scanning is a valuable method, especially for determining the renal involvement in the early stage of disease.

Key words: Laurence-Moon-Bardet-Biedl syndrome Renal involvement Renal scan Siblings 

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Copyright information

© IPNA - International Pediatric Nephrology Association New York, USA 1997

Authors and Affiliations

  • Birsen Uçar
    • 1
  • Ayten Yakut
    • 1
  • Nurdan Kural
    • 1
  • Ferit Büyükaşık
    • 1
  • Erkan Vardareli
    • 2
  1. 1.Osmangazi University, Faculty of Medicine, Department of Pediatrics, Eskişehir, TurkeyTR
  2. 2.Osmangazi University, Faculty of Medicine, Department of Nuclear Medicine, Eskişehir, TurkeyTR

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