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

[primary hyperoxaluria type 1]

Primary hyperoxaluria type 1 (PH 1 ) 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 PH 1 , 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 .

Diseases
Validation

Diseases presenting "small intestine" symptom

benign recurrent intrahepatic cholestasis

cystinuria

junctional epidermolysis bullosa

malignant atrophic papulosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

pleomorphic liposarcoma

primary hyperoxaluria type 1

severe combined immunodeficiency

typhoid

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