Prader-Willi syndrome complicated with nephrotic syndrome and acute kidney injury: a case report

Abstract

AbstractBackground:Prader-Willi syndrome (PWS) is a multisystem disorder caused by aberrant genomics which silences genes in the 15q11-q13 region. It is characterized by multiple cognitive, behavioral, and endocrine abnormalities.Case presentation:We present a case of a 28-year-old male patient diagnosed with PWS with diabetes mellitus, nephrotic syndrome (proteinuria > 3.5 g/24 h) and acute kidney injury who eventually entered end-stage renal disease and started dialysis. Through genetic diagnosis, we found that the patient had heterozygous deficiency in the chr15 deletion segment. The patient’s mother was heterozygous and the father was wild-type, suggesting that the 4.86 Mb deletion in the 15q11.2-q13.1 segment of the patient was a paternal chromosomal deletion.Conclusion:PWS has various clinical manifestations and a poor prognosis. Early diagnosis, long-term follow-up, and in-time treatment could improve the quality of life and prognosis of PWS patients.