title: [Prune-Belly Syndrome: a case report].
abstract: Prune-Belly Syndrome (PBS) is a rare congenital syndrome characterized by the absence of abdominal muscles, anomalies in the urinary tract, megaureter, cryptorchidism or testicular agenesis, hypertension and worsening chronic kidney disease (CKD). The incidence is estimated between 1 out of 35,000 and 1 out of 50,000 born alive, and it affects males in prevalence (97%). In the present study we describe the case of a 38 year old male patient (followed since May 2011) affected by PBS, CKD, one functional kidney at the scintigraphy, pediatric testicular implants, bladder surgery and correction of pectus excavatum. At the beginning of the observation, renal function was deteriorated, with a creatinine 3.3 mg/dl, GFR calculated at MDRD 23 ml/min, proteinuria in nephrotic range (4 g/day), high blood pressure, anemia and hyperparathyroidism. In the following examinations renal function framework worsened, despite the adoption of a low-protein diet. Due to the functional trend, the patient was prescribed hemodialysis as substitute treatment. In January 2013 a first attempt of artero-venous fistula (AVF) did not succeed, while a new AVF in March 2013 resulted effective. In July hemodialysis was started. In the future, we expect to insert the patient in the Kidney Transplant List (since surgical feasibility has already been positively evaluated). Our case is quite peculiar due to the late beginning of substitute treatment. Further, SPB represents a challenge that, in the absence of a prompt and effective treatment, inevitably it leads to terminal uremia; nevertheless, given a proper treatment, a transplant with good chances of success can be envisaged.
authors.forename: Fabio
authors.initials: F
authors.lastname: Tattoli
authors.forename: Ornella
authors.initials: O
authors.lastname: De Prisco
authors.forename: Maurizio
authors.initials: M
authors.lastname: Gherzi
authors.forename: Daniela
authors.initials: D
authors.lastname: Falconi
authors.forename: Federico
authors.initials: F
authors.lastname: Marazzi
authors.forename: Marita
authors.initials: M
authors.lastname: Marengo
authors.forename: Ilaria
authors.initials: I
authors.lastname: Serra
authors.forename: Michela
authors.initials: M
authors.lastname: Tamagnone
authors.forename: Marco
authors.initials: M
authors.lastname: Formica
mesh_terms: D000328:Adult; D006801:Humans; D059785:Karyotype; D008297:Male; D011535:Prune Belly Syndrome / Q000175:diagnosis / Q000235:genetics