Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome: report of five cases.
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.
Uçar
B
B
Osmangazi University, Faculty of Medicine, Department of Pediatrics, Eskişehir, Turkey.
Yakut
A
A
Kural
N
N
Büyükaşik
F
F
Vardareli
E
E
D000293:Adolescent; D002648:Child; D017809:Fatal Outcome; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007668:Kidney / Q000000981:diagnostic imaging / Q000473:pathology*; D007677:Kidney Function Tests; D007849:Laurence-Moon Syndrome / Q000000981:diagnostic imaging / Q000473:pathology*; D008297:Male; D011877:Radionuclide Imaging; D014057:Tomography, X-Ray Computed; D014567:Urography