Rare Diseases Symptoms Automatic Extraction

Encapsulating peritoneal sclerosis in a patient with primary hyperoxaluria type 1: a case report.

[primary hyperoxaluria type 1]

Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder caused by a defect in glyoxylate metabolism attributable to low or absent activity of the liver-specific peroxisomal enzyme alanine/glyoxylate aminotransferase. This defect leads to enhanced conversion of glyoxylate to poorly soluble oxalate, which is then excreted into the urine. This process may lead to deposition of calcium oxalate crystals in many tissues as well as in the kidneys, resulting in nephrolithiasis, nephrocalcinosis, and/or renal failure. We present a 39-year-old patient with end-stage renal failure due to PH1, who was admitted with symptoms of feeling bloated, vomiting, diarrhea, and abdominal pain related to encapsulating peritoneal sclerosis (EPS). He had been treated with peritoneal dialysis for a total period of 5 years. EPS is a rare condition characterized by fibrosis and adhesions of the peritoneum to loops of the small intestine and has been described secondary to treatment with peritoneal dialysis. It also occurs in a variety of other clinical conditions such as autoimmune diseases and peritoneal and intra-abdominal malignancies. The calcium oxalate crystals found in the peritoneal fascia of this particular patient may suggest a causative relationship between crystal deposits and evolution to fibrosis and sclerosis of the peritoneum. The degree of impact of the peritoneal dialysis treatment itself on the development of EPS, however, is uncertain.