Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020639 (hypoproteinemia)
 1,134 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Failure to thrive may not be a result of organ disease, physical abuse, or intentional neglect. We describe an infant who developed kwashiorkor with a high-fat, low-protein, nondairy coffee creamer diet. The elimination diet was administered on the advice of a family friend for a facial rash. The child presented at 10 months of age with decreased weight for height, rash, hepatomegaly, edema, hypoproteinemia, hypoalbuminemia, anemia, hypoglycemia, and evidence of hepatic sequestration of lipids. A rapid recovery of biochemical abnormalities was evident on reinstitution of a full diet. An intellectual assessment at age 5 years showed normal results.
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PMID:Nondairy-creamer-induced kwashiorkor: 5-year follow-up. 186 86

In a 6.5 year period starting January 1982, 121 patients (74 male, 47 female; 1.6:1) with complicated gastroesophageal reflux referred to Alberta Children's Hospital, University of Calgary, required a Nissen fundoplication at a mean age of 35.5 months (range 3 weeks to 18 years). The median age of onset of symptoms was less than 1 month. Symptoms and indications for surgery included regurgitation (88%), failure to thrive (52%), reflux-associated pulmonary symptoms and aspiration (48%), biopsy evidence of esophagitis (35%) with heartburn (17%), dysphagia (18%), hematemesis (17%), anemia (13%), and hypoproteinemia (22%). Sixty-four percent of the patients had a syndrome or chromosomal abnormality, respiratory disease, or neuromuscular disorder. The barium contrast upper-gastrointestinal radiographic series, performed in all patients, identified structural [gastric outlet obstruction (2%), esophageal stricture (11%), erosive esophagitis (9%)], and functional abnormalities [gastroesophageal reflux (90%), barium aspiration (8%), esophageal hypoperistalsis (30%), delayed gastric emptying (4%)]. Barium contrast upper gastrointestinal radiographic series identified gastroesophageal reflux with a sensitivity of 90% (compared to history), was 50% sensitive and 92% specific for erosive esophagitis (compared to biopsy), was 59% sensitive and 74% specific for esophageal dysmotility (compared to esophageal manometry), and there was a significant (p less than 0.01) association between barium aspiration and prior evidence of aspiration pneumonitis. Esophageal manometry demonstrated a significantly (p less than 0.001) lower esophageal sphincter pressure in patients compared with controls, but no significant correlation with failure to thrive, aspiration pneumonia, biopsy evidence of esophagitis, or parameters of the 24-hour esophageal pH study. Twenty-four hour pH monitoring showed significantly (p less than 0.05) more reflux episodes than in asymptomatic controls and there was significant (p less than 0.05) correlation between the percentage of time pH was less than 4 and the presence of hypoalbuminemia, and biopsy-proven erosive esophagitis or Barrett's esophagus. Endoscopic appearance was 91% sensitive and 60% specific for esophagitis when compared to biopsy. Nissen fundoplication was completely effective at resolving gastroesophageal reflux in 83%, and associated with marked improvement in 15%. No patient died as a result of fundoplication. Major complications included: recurrence of symptoms requiring reoperation (2%), subsequent mechanical bowel obstruction (8%), wound infection or pneumonia (12%).
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PMID:Investigation and outcome of 121 infants and children requiring Nissen fundoplication for the management of gastroesophageal reflux. 227 17

This report describes a new disorder resembling hereditary tyrosinemia (HT) but differing from it in several respects. Similarities include failure to thrive with hypoproteinemia, micronodular cirrhosis, alpha-fetoprotein positive hepatocellular carcinoma, renal Fanconi syndrome with renal tubular ectasia, hypermethioninemia, and hypoglycemia associated with islet cell hyperplasia. However, the tyrosine metabolic pathway was intact. Unique findings include optic atrophy, cerebellar degeneration, and exocrine pancreatic hypoplasia. Polyunsaturated fatty acid (PUFA) status was evaluated in the serum and liver. Initial PUFA profile to serum phospholipids revealed grossly elevated linoleic acid and subnormal linolenic acid. All PUFAs derived from these precursors were absent suggesting gross abnormalities in the utilization of these two essential fatty acids for synthesis of longer chain highly unsaturated structural PUFA. Analysis of liver phospholipids indicated that linoleic acid was lower and w3 and monenoic acids were higher than in the liver specimens from two cases of HT. The gross abnormalities in PUFA pattern, although perhaps secondary to another cause, represent serious structural and functional abnormalities of essential membrane lipids and potentially of eicosanoids derived from them.
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PMID:A new hepato-pancreato-renal disorder resembling tyrosinemia involving neuropathy and abnormal metabolism of polyunsaturated acids. 283 82

Today pediatricians are confronted with an increasing number of unconventional feeding practices. Most frequently encountered are the various forms of vegetarian diets. These as well as numerous other unconventional foods may result in a failure to thrive when fed to children routinely. Since in general it is not possible to influence the families' eating practices, physicians should know the risks of unconventional diets, such as hypoproteinemia, calcium deficiency and deficiencies of vitamin B12 and vitamin D and the respective clinical symptoms. Predominantly young people decide to change their life-style, unconventional eating practices being part of it.
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PMID:[Sociocultural aspects of child nutrition--food faddism]. 374 35

We report a 13-mo-old patient with isolated congenital enterokinase deficiency and review the clinical features, diagnostic approach, and management of all 8 reported patients. Our patient presented with failure to thrive, diarrhea, and hypoproteinemia since birth. A normal sweat chloride with small intestinal histology, and nondetectable trypsin activity in the duodenal fluid should alert the physician to the possibility of isolated enterokinase deficiency. All reported patients, including our own, responded favorably to pancreatic enzyme replacement. In vitro studies of the small intestinal mucosal biopsy specimen suggest that enterokinase deficiency at least in part is due to altered enzymes with low enterokinase activity.
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PMID:Isolated congenital enterokinase deficiency. Recent findings and review of the literature. 634 1

An infant with allergic eosinophilic gastroenterocolitis is described. The patient presented with vomiting, diarrhea, gastrointestinal bleeding, and failure to thrive. Anemia, hypoproteinemia, and peripheral eosinophilia were also present. Gastrointestinal endoscopy revealed multiple mucosal ulcerations in the stomach, small intestine, and colon. Histological study of the affected areas showed infiltration of the mucosa by eosinophils, increased mucosal IgE plasma cells, and activated intraepithelial lymphocytes. Treatment with corticosteroids resulted in clinical and histological remission.
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PMID:Disseminated ulcerations in allergic eosinophilic gastroenterocolitis. 707 97

Intestinal failure is a concept developed to define the situation wherein either severe primary gastrointestinal disease or a surgically induced short bowel syndrome exists and prevents an adequate oral intake of nutrients such that parenteral nutrition is required. Typically, because of disease associated problems, total parenteral nutrition is required in most cases of intestinal failure. The major cause of intestinal failure in both adults and children is surgical resection resulting in a short bowel syndrome. The clinical signs and symptoms of a short bowel syndrome include any combination of the following: intractable diarrhea, steatorrhea, failure to thrive, acidosis, dehydration, trace element deficiency syndromes, hypoproteinemia, hypovitaminosis, and anemia. It is often difficult to predict at the time of a bowel resection whether or not a short bowel syndrome will occur postoperatively. This is the case because any of a number of confounding problems such as (a) difficulty in precisely estimating the length of the remaining small bowel at the time of the operation, (b) the presence of disease in the residual small bowel that can produce further shortening or impair residual intestinal function, and (c) the presence or absence of the ileal cecal valve, which can be critical in determining the adaptability of the residual bowel.
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PMID:Intestinal failure and intestinal transplantation: new therapy for individuals sustaining large losses of bowel: a review. 759 82

Enterokinase is a glycoprotein and is now designated enteropeptidase (E.C.3.4.4.8.). It is present in the duodenal and jejunal mucosa. Pancreatic proteolytic enzymes are secreted as proenzymes. Enterokinase converts trypsinogen to trypsin in the duodenal lumen. Duodenopancreatic reflux of duodenal enterokinase may be important in the pathogenesis of experimental and clinical acute pancreatitis. Congenital enterokinase deficiency is a distinct clinical entity characterized by diarrhea, failure to thrive, hypoproteinemia, and edema. Acquired enterokinase deficiency may occur in some diffuse small bowel diseases. Steatorrhea of celiac spruce may be due partly to the fact that deficiency of secretin and cholecystokinin may interfere with the action of enterokinase. The interrelationship between secretin, cholecystokinin, enterokinase, and bile salts is not completely understood.
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PMID:Enterokinase. 820 33

A syndrome of chronic diarrhea, vomiting, and failure to thrive was described 35 years ago. The syndrome was caused by damage in the jejunum after ingestion of cow's milk. Symptoms appeared in young infants shortly after introduction of cow's milk formula. Patients had moderate steatorrhea, decreased absorption of D-xylose, and, often, iron-deficiency anemia and hypoproteinemia. They had strong IgA and IgG antibodies to cow's milk. IgE antibodies to cow's milk were negative, as a rule. Indicators of cell-mediated immune reaction to cow's milk proteins were often positive. Patients were tolerant to cow's milk by the age of 3 years. Malabsorption was due to damage to the jejunal mucosa: Varying villus atrophy was associated with inflammation in surface epithelium and lamina propria. The epithelial cell renewal rate increased. Surface epithelial cells decreased in height, with short, furry microvilli and large aggregates of lysozymes. The number of intraepithelial lymphocytes was markedly increased, but normalized during cow's milk elimination. Most of these lymphocytes had alpha/beta T-cell receptors, and many were cytotoxic. Some specimens had an increase in gamma/delta T-cell receptor-bearing cells. In the lamina propria, CD4+ cells predominated, and some of them were activated. IgA- and IgM-containing cells were markedly increased during cow's milk exposure, but IgE cells were not abnormal. The density of eosinophils was moderately increased. Secretion of interferon-gamma by cells isolated from patients' intestines was markedly increased. Morphologic and immunologic findings suggest that T-cell-mediated reaction to proteins in cow's milk is present in the small intestines of patients with this syndrome and causes this enteropathy.
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PMID:Food-induced malabsorption syndromes. 1063 1

A deficiency of citrin, which is encoded by the SLC25A13 gene, causes both adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD). We analyzed 16 patients with NICCD to clarify the clinical features of the disease. Severe intrahepatic cholestasis with fatty liver was the most common symptom, but the accompanying clinical features were variable, namely; suspected cases of neonatal hepatitis or biliary atresia, positive results from newborn screening, tyrosinemia, failure to thrive, hemolytic anemia, bleeding tendencies and ketotic hypoglycemia. Laboratory data showed elevated serum bile acid levels, hypoproteinemia, low levels of vitamin K-dependent coagulation factors, and hypergalactosemia. Hypercitrullinemia was detected in 11 out of 15 patients examined. Most of the patients were given a lactose-free and/or medium chain triglycerides-enriched formula and lipid-soluble vitamins. The prognosis of the 16 patients is going fairy well at present, but we should observe these patients carefully to see if they manifest any symptom of CTLN2 in the future.
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PMID:Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients. 1554 92


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