Research Notes: Renal Function in Prader-Willi Syndrome (PWS)

Clin Nephrol. 2000 Mar.
Focal segmental glomerulosclerosis in a patient with Prader-Willi syndrome.
Mochizuki H, Joh K, Matsuyama N, Imadachi A, Usui N, Eto Y.
Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan.

The authors describe a girl with Prader-Willi syndrome associated with focal segmental glomerulosclerosis. Severe obesity and unilateral renal agenesis, taken together, may have played an important role in the development of her specific renal disease.

Hinyokika Kiyo. 1998 Jan.
A case of Prader-Willi syndrome accompanied with a renal stone. [Article in Japanese]
Asanuma H, Nagatsuma K, Baba S, Murai M.
Department of Urology, School of Medicine, Keio University.

Little information is available regarding the correlation between Prader-Willi syndrome and urolithiasis. We report a patient with Prader-Willi syndrome with a renal uric acid (UA) stone. A 23-year-old male patient was admitted to our department with gross hematuria and left flank pain. The blood and urine examination demonstrated hyperuricemia with the presence of UA crystals in the urine. Excretory urography revealed a radiolucent stone (17 x 27 mm) in the left renal pelvis suggesting a UA stone. The stone was removed successfully using extracorporeal shockwave lithotripsy (ESWL) combined with medication for UA metabolism. The stone was thought to have formed as a result of overeating associated with Prader-Willi syndrome, and accompanying overproduction of purine.

Am J Med Genet. 1992 Jul 15.
Membranoproliferative glomerulonephritis in a child with Prader-Willi syndrome.
Robson WL, Leung AK.
University of Calgary, Department of Pediatrics, Alberta, Canada.

We describe a girl with Prader-Willi syndrome and membranoproliferative glomerulonephritis. She had a deletion at 15q11-13. The deletion may have made the child susceptible to renal disease.

Wiad Lek. 1987 May 15.
A case of Prader-Willi syndrome with tubular acidosis and partial ocular albinism. [Article in Polish]
Parcheta B, Piontek E, Zawadzki J, Ryzko J.

No abstract available.