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)

The interrelationship of enterokinase and trypsin activities were investigated in 133 infants and children with a variety of gastrointestinal and pancreatic disorders. Fourteen patients with diarrhea and grade II mucosal injury revealed a significant (P less than 0.01) reduction of enterokinase, trypsin, and disaccharidase activites as compared to 59 children with normal mucosa. Nine patients with cystic fibrosis and pancreatic insufficiency had normal mucosal enterokinase activity and elevated intraluminal enterokinase activity with very low or no trypsin activity. Patients with hypoproteinemia and gastrointestinal protein loss, associated with intestinal lymphangiectasia (4 patients) and intestinal lymphoid nodular hyperplasia (3 patients), had normal or insignificant decrease of enterokinase and trypsin activities. In patients with steatorrhea, a normal sweat test, normal intestinal mucosa, and absent trypsin activity, two entities were defined. One group (3 patients) was diagnosed as Schwachman-Diamond syndrome with pancreatic insufficiency and normal mucosal and intraluminal enterokinase activity. The second group (2 patients) with absent mucosal and intraluminal enterokinase activity and normal lipase and amylase activities was diagnosed as congenital enterokinase deficiency.
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PMID:Enterokinase and trypsin activities in pancreatic insufficiency and diseases of the small intestine. 94 55

We report the case of a 9 month-old infant in whom acute heart failure was the presenting symptom of cystic fibrosis. Post-mortem examination showed lesions of myocardial fibrosis associated with typical lesions of cystic fibrosis in the pancreas. Hypoproteinemia and anemia were present and earlier could have suggested the correct diagnosis before the episode of acute heart failure. The analogy of the histologic myocardial changes in cystic fibrosis and in congenital lipomatosis of the pancreas suggests a common pathogeny related to the deficiency of the exocrine secretion of the pancreas.
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PMID:[Myocardial fibrosis in cystic fibrosis. A new case report (author's transl)]. 706 17

Among the total number of patients treated at the Danish National Center for cystic fibrosis during the period 1949-1980, 130 had been hospitalized during infancy. Seven of them (approximately 5%) had developed edema, hypoproteinemia, and anemia between their first and fifth month of life. All seven patients had survived for more than 1 year after the onset of the symptom complex. This finding differs markedly from observations in studies from abroad; the prognosis in children with these presenting symptoms of cystic fibrosis is generally stated as being poor. Most of the sweat electrolyte tests performed during the edema period were within the limits of normality but became elevated after the edema resolved.
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PMID:The incidence of anemia, hypoproteinemia, and edema in infants as presenting symptoms of cystic fibrosis: a retrospective survey of the frequency of this symptom complex in 130 patients with cystic fibrosis. 718 48

Cystic fibrosis is a genetic disorder characterized by chronic obstructive pulmonary disease, pancreatic exocrine deficiency, and abnormally high sweat electrolyte concentrations. Less frequently, the presenting features in infants may include edema, anemia, hypoproteinemia, and acrodermatitis enteropathica. Liver involvement may produce hepatomegaly and mild elevation of transaminases. This clinical symptom usually presents within the first 6 months of life and is associated with a high morbidity and mortality. Early recognition and institution of appropriate nutritional supplementation and pancreatic enzymes is essential to improve outcome. Since the sweat test may be falsely negative, emergency physicians must maintain a high index of suspicion to make the diagnosis of cystic fibrosis in an infant who presents with edema, anemia, hypoproteinemia, and acrodermatitis enteropathica.
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PMID:Edema, anemia, hypoproteinemia, and acrodermatitis enteropathica: an uncommon initial presentation of cystic fibrosis. 1475 9

We describe a female infant with an acrodermatitis enteropathica-like eruption as the presenting sign of rapidly fatal cystic fibrosis. The patient had growth retardation, developed an erythematous eruption unresponsive to oral zinc, and finally a generalized erosive dermatitis with associated edema, anemia and hypoproteinemia.
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PMID:Acrodermatitis enteropathica-like eruption and failure to thrive as presenting signs of cystic fibrosis. 1879 43

Presentation of cystic fibrosis (CF) with an acrodermatitis enteropathica-like skin rash, anemia, and hypoproteinemia without pulmonary disease is rarely reported before. We describe an 11-month-old boy with rash and edema as the presenting signs of cystic fibrosis. The interesting additional finding in our patient was the graying hair after 3 months of age. A reversal of the gray hair was observed by pancreatic enzyme replacement therapy. In conclusion, acrodermatitis-like eruption and hypoproteinemia can be a presenting sign of CF. Graying hair has not been noticed so far as a sign of CF in these patients.
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PMID:Gray hair and acrodermatitis enteropathica-like dermatitis: an unexpected presentation of cystic fibrosis. 2142 70