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)

From 1980-1986 intestinal mucosal lymphangiectasia was diagnosed histologically in eight patients (6 weeks to 16 years; four males/four females; seven white). The presenting features were diarrhea (six/eight), vomiting (four/eight), and growth deficit (seven/eight). Additional conditions in these patients included asthma, urinary tract infection, esophageal atresia, hydrops fetalis, inflammatory bowel disease, malabsorption syndrome, and thymic hypoplasia. Hypoalbuminemia and edema (four/eight) were more prominent in those patients under 5 years of age. Two had systemic lymphangiectasia and lymphopenia. The patients responded variably to hyperalimentation and dietary supplements, depending on the extent of their lymphangiectasia and the age at onset of symptoms. Dilated lymphatics were seen in the small intestinal mucosa under the surface epithelium. Lesions were often focal, requiring several biopsies or serial sections for detection. Other common findings were mild to moderate lymphoplasmacytic inflammation and mild to moderate villous injury with blunting and edema. Mild inflammation without lymphangiectasia was also present in esophageal, gastric, or colonic biopsies. Diagnosis should be made on the basis of endoscopic findings or in small-intestinal inflammatory conditions even in the absence of a classic clinical picture. Histologic confirmation may require more than one serially sectioned biopsy. This study confirms the diversity of disorders that may be associated with intestinal lymphangiectasia and shows that the disease in infants is more severe and generalized.
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PMID:Intestinal lymphangiectasia in children: a study of upper gastrointestinal endoscopic biopsies. 274 90

Esophageal replacement by total gastric transposition was performed on 34 infants (32 with esophageal atresia) in the 5.5-year period from January 1981 to June 1986. There were three deaths (9%), two occurring in the early postoperative period, with the third occurring 1 year after surgery from persistent chronic respiratory problems. Fourteen infants had a totally uncomplicated course and have not required further admissions. Thirteen infants had early postoperative problems including six with delayed gastric emptying, four with anastomotic strictures requiring dilatation, and two with radiologic anastomotic leaks. Four late complications consisted of two adhesion intestinal obstructions, a perforation related to a jejunal feeding tube, and a child in whom malabsorption subsequently developed. An excellent result has been obtained in 24 infants, four doing well with only minor problems with feeding, and two are fair experiencing persisting difficulties. These results compare favorably with a large previous experience in colon interposition.
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PMID:Gastric transposition for esophageal replacement in children. 360 33

Between 1963 and 1980, 34 elective esophageal reconstructions were performed on 29 esophageal atresia patients. Five patients needed two reconstructions. Among 20 colon replacement procedures there were 2 early deaths and three transplants failed. In 14 gastric tube reconstructions there was no mortality, but two tubes failed. The mean follow-up age of the 15 colon esophagus patients was 11.8 yrs, while for the 12 gastric tube patients it was 5.6 yrs. One death occurred during the follow-up period in each group. Late complications occurred in 7/15 of the colon and 3/12 of the gastric tube groups. Most of the serious complications occurred within 3 yr after surgery. The previously reported malabsorption following colon interposition seemed to be transient. At follow-up all but 3 patients with no significant other anomalies were within two standard deviations of the mean of height and weight. All were satisfied with their new esophagus. Nine out of 14 of the colon and 7/11 of the gastric tube groups were without symptoms, the others having only minor complaints. It is concluded that both colon replacement and gastric tube are satisfactory methods for esophageal reconstruction, and the long-term function seems equally good. However, the gastric tube procedure is easier to perform, has less mortality and fewer complications than colon replacement.
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PMID:Colon interposition or gastric tube? Follow-up study of colon-esophagus and gastric tube-esophagus patients. 683 27

Intestinal epithelial dysplasia (IED), also known as tufting enteropathy, is a congenital enteropathy presenting with early-onset severe intractable diarrhea causing sometimes irreversible intestinal failure. To date, no epidemiological data are available, however, the prevalence can be estimated at around 1/50,000-100,000 live births in Western Europe. The prevalence seems higher in areas with high degree of consanguinity and in patients of Arabic origin. Infants develop within the first days after birth a watery diarrhea persistent in spite of bowel rest and parenteral nutrition. Some infants are reported to have associated choanal rectal or esophageal atresia. IED is thought to be related to abnormal enterocytes development and/or differentiation. Nonspecific punctuated keratitis was reported in more than 60% of patients. Histology shows various degree of villous atrophy, with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium with disorganization of surface enterocytes with focal crowding, resembling tufts. Several associated specific features were reported, including abnormal deposition of laminin and heparan sulfate proteoglycan (HSPG) in the basement membrane, increased expression of desmoglein and ultrastructural changes in the desmosomes, and abnormal distribution of alpha2beta1 integrin adhesion molecules. One model of transgenic mice in which the gene encoding the transcription factor Elf3 is disrupted have morphologic features resembling IED. Parental consanguinity and/or affected siblings suggest an autosomal recessive transmission but the causative gene(s) have not been yet identified making prenatal diagnosis unavailable. Some infants have a milder phenotype than others but in most patients, the severity of the intestinal malabsorption even with enteral feeding make them totally dependent on daily long-term parenteral nutrition with a subsequent risk of complications. IED becomes an indication for intestinal transplantation, while timing of referral for it is crucial before the onset of severe complications.
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PMID:Intestinal epithelial dysplasia (tufting enteropathy). 1744 33