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

• Published in: Pediatric nephrology (Berlin, West) Vol. 11; no. 1; pp. 31 - 35
• Main Authors: UCAR, B, YAKUT, A, KURAL, N, BÜYÜKASIK, F, VARDARELI, E
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01.02.1997; Springer Nature B.V
• Subjects: Adolescent; Biological and medical sciences; Child; Complex syndromes; Fatal Outcome; Female; Follow-Up Studies; Humans; Kidney - diagnostic imaging; Kidney - pathology; Kidney Function Tests; Kidneys; Laurence-Moon Syndrome - diagnostic imaging; Laurence-Moon Syndrome - pathology; Male; Medical genetics; Medical sciences; Nephrology. Urinary tract diseases; Radionuclide Imaging; Tomography, X-Ray Computed; Urinary system involvement in other diseases. Miscellaneous; Urography; Endocrinopathy; Radionuclide study; Human; Kidney disease; Obesity; Nervous system diseases; Urinary system disease; Diseases of the osteoarticular system; Nutrition disorder; Stage classification; Technetium; Scintigraphy; Genital diseases; Case study; Eye disease; Nephropathy; Malformation; Medical imagery; Complication; Diagnosis; Child; Laurence Moon Bardet Biedl syndrome
• ISSN: 0931-041X; 1432-198X
• DOI: 10.1007/s004670050228

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.