Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Severe, recalcitrant hypocalcemia and hungry bone syndrome can complicate parathyroidectomy in end-stage renal disease patients. Treatment with prolonged and massive doses of intravenous calcium, with calcitriol supplementation, is often necessary, but potentially dangerous and may prolong hospitalization. Three CAPD patients (including 1 with malabsorption) were safely treated by adding 1 to 3 ampules (10-30 mL) of 10% calcium gluconate solution to each bag of dialysate for up to 29 months. Continuous ambulatory intraperitoneal calcium (CAIC) therapy was initiated postoperatively and continued on an outpatient basis until the patients' hungry bone syndrome resolved and serum calcium normalized. Complications such as visible dialysate precipitation or an increased rate of peritonitis were not observed. Mean total calcium uptake was approximately 137 to 226 mg/exchange. We conclude that CAIC therapy is a safe, effective treatment both for CAPD patients with postparathyroidectomy hypocalcemia with hungry bone syndrome, as well as in patients with hypocalcemia secondary to malabsorption.
Perit Dial Int 1989
PMID:Successful treatment of postparathyroidectomy hypocalcemia using continuous ambulatory intraperitoneal calcium (CAIC) therapy. 248 83

Congenital disorders of glycosylation (CDG) are inborn errors of metabolism presenting with multi-system organ involvement due to defective glycosylation of glycoproteins. We report here a case of microcephaly, hypotonia, seizure disorder and severe developmental delay since infancy in whom screening for CDG with transferring isoelectric focussing (TIEF) revealed a type I pattern. Following investigation, the specific defect in glycosylation remains to be identified; hence, a diagnosis of CDG Ix (type unknown) was made. At the age of 15-months the patient developed nephrotic syndrome and renal biopsy indicated a histopathological diagnosis of diffuse mesangial sclerosis on histopathology. Since cases of CDG Ix may often develop hypoalbuminaemia secondary to malabsorption or liver disease, this case highlights the need for additional regular monitoring for glomerular proteinuria, and indicates that a diagnosis of nephrotic syndrome should be considered in all types of CDG. Furthermore, we propose that early treatment with anti-proteinuric agents may be necessary to limit proteinuria and slow disease progression.
Nephrol Dial Transplant 2009 Aug
PMID:Congenital disorders of glycosylation: a rare cause of nephrotic syndrome. 1947 79

Encapsulating peritoneal sclerosis is a severe complication of peritoneal dialysis. Progressive sclerotic thickening of the peritoneum results in tethering and cocooning of the bowel, leading to chronic bowel obstruction, malabsorption, malnutrition, and high mortality. Conservative treatment is often unsuccessful and a surgical enterolysis is required for management. Pseudoachalasia is a rare condition that mimics the clinical and radiological features of achalasia of the cardia. Pseudoachalasia is most commonly caused by infiltrating or metastasizing cancers. In this report, we present a case of pseudoachalasia associated with encapsulating peritoneal sclerosis. The clinical symptoms settled after peritonectomy and enterolysis.
Perit Dial Int
PMID:Pseudoachalasia of the esophagus caused by encapsulating peritoneal sclerosis. 2020 Mar 72

Bowel bacterial overgrowth syndrome (BBOS) is an important cause of gastrointestinal (GI) abnormalities. Proinflammatory cytokines (PICs) are excessively produced and accumulate because of kidney failure in dialysis patients who experience chronic infections such as BBOS. We explored the association between GL function, BBOS, and the malnutrition, inflammation, and atherosclerosis (MIA) syndrome. We studied GI malabsorption and maldigestion by analyzing fecal starch, sugar, fat, and nitrogen; intestinal protein permeability (alpha1-antitrypsin fecal clearance); and fecal chymotrypsin. We evaluated BBOS by breath hydrogen test (BHT) after a 3-day fat-and-carbohydrate-overload diet. Positive BHT was present in 10 patients, showing a high prevalence of GI macronutrient malabsorption and maldigestion, and compared with the other patients, the highest plasma levels of tumor necrosis factor alpha and interleukin 6 and lower levels of albumin and prealbumin. Those 10 patients were treated with a combination of several antibiotics, including neomycin, amoxicillin-clavulanate, and quinolones. Between 2 and 3 months later, the BHT, markers of nutrition, and PIC were re-tested. All treated patients showed an improvement in nutrition status and a lesser inflammatory pattern. The BBOS infectious process is found frequently in dialysis patients in association with GI malabsorption and maldigestion, malnutrition, and systemic inflammation. Hyperproduction of PIC because of BBOS induces MIA through a double pathway: GI disorders and deleterious systemic effects.
Adv Perit Dial 2010
PMID:Bowel bacterial overgrowth as another cause of malnutrition, inflammation, and atherosclerosis syndrome in peritoneal dialysis patients. 2134 95