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)

OBJECTIVE. Enteropathy is a very common feature in patients with primary immunodeficiencies. In patients with Del22 gastrointestinal (GI) alterations, including feeding disorders and congenital abnormalities have been often reported, mostly in the first year of life. MATERIAL AND METHODS. Aim of this monocentric study is to better define the GI involvement in a cohort of 26 patients affected with Del22 syndrome. Anamnestic information was retrospectively collected for each patient. Weight and height parameters at the time of the screening were recorded. Plasma levels of hemoglobin, iron, ferritin, albumin, total protein, calcium, phosphorus, transaminase levels, antigliadin (AGA) IgA and IgG, and antitissue transglutaminase (anti-TGase) titers were measured. RESULTS. A GI involvement was identified in the 58% of patients. The prominent problems were abdominal pain, vomiting, gastroesophageal reflux and chronic constipation. Weight deficiency, short stature and failure to thrive were reported in 54, 42, and 30% of the patients, respectively. The evidence of sideropenic anemia, in keeping with hypoproteinemia, impaired acid steatocrit or cellobiose/mannitol test suggested an abnormal intestinal permeability. In this cohort, a high prevalence of AGA IgA and IgG positivity was observed. Celiac disease (CD) was suspected in three patients, and in one of them confirmed by histology. In this patient, a long-lasting gluten-free diet failed to restore the intestinal architecture. CONCLUSIONS. In conclusion, GI involvement is a very common feature in Del22 patients. A better characterization of GI involvement would be very useful to improve the management of these patients.
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PMID:Gastrointestinal involvement in patients affected with 22q11.2 deletion syndrome. 2434 32

Juvenile polyposis syndrome (JPS) is a dominantly inherited disorder characterized by the development of numerous juvenile polyps (JPs) of the gastrointestinal tract, and associated with a mutation of the SMAD4 or BMPR1A gene. Here, we report a mother-daughter case of familial JPS. A 29-year-old female patient with severe iron deficiency anemia and hypoproteinemia had numerous polyps in the stomach and a few polyps in the ileum and colon that were detected endoscopically. Biopsy specimens from the gastric polyps were diagnosed as JPs. The patient underwent a laparoscopy-assisted total gastrectomy, and her anemia and hypoproteinemia improved. Her mother also had multiple JPs in the stomach, duodenum, jejunum, and colon. We then diagnosed them as having familial JPS. Moreover, germline mutation analysis of the 2 patients presented a novel pathogenic SMAD4 variant.
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PMID:Familial juvenile polyposis syndrome with a novel SMAD4 germline mutation. 2618 32

Celiac crisis is a rare, acute, and life-threatening presentation of celiac disease. Its clinical presentations consist of severe watery non-bloody diarrhea, electrolyte disturbances (i.e. hypokalemia, hyponatremia, hypomagnesemia, hypocalcemia, and metabolic acidosis), hypoproteinemia, and dehydration. Here we present a 33-year-old woman who referred with profuse diarrhea, weight loss, hemodynamic instability, hypokalemia, hypoproteinemia, ascites, pancytopenia, and iron deficiency anemia. She used herbal medicines for constipation and had severe weakness after her childbirth. The patient was diagnosed as having celiac disease through pathological and serological evaluations 10 months earlier. Diagnosis of celiac crisis after ruling out the other causes of resistant celiac was made and she was treated with steroids.
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PMID:Celiac Crisis in a Young Woman: Raising Awareness of a Life-Threatening Condition. 3182 27


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