ESPE Abstracts (2014) 82 P-D-3-3-794

Prader-Willi Syndrome: Reports of Two Patients with Congenital Abnormalities of Kidney and Urinary Tract

Federica Tamburrinoa, Emanuela Scaranoa, Francesca Mencarellib, Annamaria Perria, Angela Colangiuloa, Benedetta Sirolia, Anna Lisa Martinia & Laura Mazzantia


aRare Diseases Unit, Department of Pediatrics, S.Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy; bPediatric Nephrology, Department of Pediatrics, S.Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy


Background: Prader–willi syndrome (PWS) is characterized by decreased fetal activity, obesity, muscular hypotonia, MR, short stature, hypogonadism and small hands and feet. Little information is available concerning PWS and kidney involvement.

Objective and hypotheses: We report two patients with PWS and congenital abnormalities of kidney and urinary tract (CAKUT).

Method: First case: male, born at 35 weeks with caesarian section, normal pregnancy. Birth weight 2090 g, length 47 cm, severe neonatal hypotonia. PWS was confirmed by maternal UPD15. GH therapy started at 3 years, stopped after 9 months for hypertrophic cardiomiopathy. At 7 years endocranial hypertension, MRI showed Arnold-Chiari malformation, surgically treated. Second case: male, born at 42 weeks, normal pregnancy, decreased fetal activity. Birth weight 3100 g, length 49 cm, severe neonatal hypotonia. PWS was confirmed by maternal UPD15. GH-therapy started at 10 years of age and continued until 18 years. Now undergoing testosterone therapy for hypogonadism.

Results: First case: Renal echography and renal MRI: hypo-dysplastic kidneys. At 12 years of age he developed mild chronic kidney disease (stage 2) with high blood pressure and proteinuria. Second case: Nephro-urological imaging showed: monolateral high grade vescico-ureteral reflux and right kidney hypoplasia. In the follow-up normal renal function with hypertrophic single kidney.

Conclusion: We report two patients with PWS and CAKUT. A literature review showed few cases with CAKUT: a patient with horseshoe kidney, an other with bilateral hydronephrosis and the last with dilated pelvis (Liu AP et al., Am J Med Genet A. 2013). At the moment the relation between congenital abnormalities of kidney and urinary tract and PWS is not clear.

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