Abstract
Prader–Willi Syndrome (PWS) is characterized by hyperphagia, severe obesity, and mental retardation from early childhood and occurs 1/10,000 to 1/15,000 live births in Japan. There is high prevalence of diabetes mellitus because of hyperphagia. The patient may sometimes face the necessity of renal replacement therapy (RRT) because of end-stage kidney disease (ESKD) caused by diabetes-associated kidney disease (DKD). Since mental retardation and extreme obesity usually prevent to introduce peritoneal dialysis (PD), hemodialysis (HD) has been the first choice of RRT. In this report, we experienced one case of patient with PWS suffering from ESKD due to DKD who started PD as an initial RRT and succeeded to continue for total of 40 months. The patient was 37-year-old man at the time of initiation of dialysis. PD was chosen for RRT because we suspected that he might have more technical difficulties for continuing HD. After several episodes of peritonitis, he successfully continues PD without peritonitis for next 27 months until the present time with good support by his family member. To our best knowledge, this is the first reported case of ESKD associated with PWS who was successfully treated with PD for long period.
Highlights
Prader–Willi syndrome (PWS) is a complex neurodevelopmental genetic disorder with multiple cognitive, behavioral, and endocrine abnormalities caused by errors in genomic imprinting generally due to lack of paternally expressed genes from the 15q11–q13 region [1]
PWS patients become overweight in early childhood due to
CEN Case Reports (2019) 8:216–220. This is the first case report that demonstrates the feasibility of peritoneal dialysis in 37-year-old PWS patient
Summary
Prader–Willi syndrome (PWS) is a complex neurodevelopmental genetic disorder with multiple cognitive, behavioral, and endocrine abnormalities caused by errors in genomic imprinting generally due to lack of paternally expressed genes from the 15q11–q13 region [1]. Family burden for supporting his dialysis was considered His body weight decreased to 64 kg (− 16 kg from admission; BMI 28.4 kg/m2) and a catheter for PD was inserted using the non-stylet method under general anesthesia combined with epidural anesthesia at the 14th day of admission. “Hybrid dialysis”, which combined daily PD with once-a-week HD, was started by creating A-V fistula at the 16th month after NIPD introduction Owing to this “hybrid dialysis”, adequate ultrafiltration volume was maintained for following 17 months. His maximum body weight without overhydration reached to 71 kg (BMI 31.6 kg/m2) during this period He lost his A-V fistula twice and returned to PD (CCPD) alone at the 38th month of NIPD introduction because of difficulty in creating another vascular access. For evaluating efficacy of PD, serum β2-microglobulin level was monitored every 2 months and revealed between 34 and 40 mg/L during the latest CCPD alone period
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