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


Ucar B. , Yakut A., Kural N., Buyukasak F., Vardareli E.

PEDIATRIC NEPHROLOGY, vol.11, no.1, pp.31-35, 1997 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 11 Issue: 1
  • Publication Date: 1997
  • Doi Number: 10.1007/s004670050228
  • Title of Journal : PEDIATRIC NEPHROLOGY
  • Page Numbers: pp.31-35
  • Keywords: Laurence-Moon-Bardet-Biedl syndrome, renal involvement, renal scan, siblings, DISEASE

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. (99)mTechnetium-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 (99)mtechnetium-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.