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)

Hypercalcemia has been described in patients with a number of granulomatous diseases, including sarcoidosis and mycobacterial infection. Disordered vitamin D metabolism is the root cause for the elevated serum calcium levels. A similar mechanism of abnormal vitamin D metabolism explained the hypercalcemia occurring in patients with lymphoma. Crohn's disease is a granulomatous disorder that is more commonly associated with hypocalcemia caused by poor calcium intake and decreased intestinal calcium absorption related to vitamin D deficiency as a consequence of malabsorption. A man with Crohn's disease who presented with hypercalcemia and acute renal failure is described. Biochemical parameters showed an elevated 1,25-dihydroxyvitamin D level, with a low-normal 25-hydroxyvitamin D level and decreased parathyroid hormone level. Inflammatory bowel disease had been clinically active during the preceding 2 months. With resolution of gastrointestinal symptoms, serum calcium, vitamin D, and parathyroid hormone levels returned to normal. Serum creatinine levels decreased toward normal. Angiotensin-converting enzyme (ACE) levels have been reported to be elevated in patients with sarcoidosis, particularly in the setting of active disease with hypercalcemia. Controversy exists about ACE levels in the face of active Crohn's disease: 1 report noted elevated levels, whereas other publications reported depressed levels. Our patient had an elevated ACE level in the setting of active bowel disease and hypercalcemia, and ACE levels returned to normal with resolution of gastrointestinal symptoms.
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PMID:Hypercalcemia due to excess 1,25-dihydroxyvitamin D in Crohn's disease. 1569 36

Primary intestinal lymphangiectasia (PIL) is a rare disorder characterized by dilated intestinal lacteals resulting in lymph leakage into the small bowel lumen and responsible for protein-losing enteropathy leading to lymphopenia, hypoalbuminemia and hypogammaglobulinemia. PIL is generally diagnosed before 3 years of age but may be diagnosed in older patients. Prevalence is unknown. The main symptom is predominantly bilateral lower limb edema. Edema may be moderate to severe with anasarca and includes pleural effusion, pericarditis or chylous ascites. Fatigue, abdominal pain, weight loss, inability to gain weight, moderate diarrhea or fat-soluble vitamin deficiencies due to malabsorption may also be present. In some patients, limb lymphedema is associated with PIL and is difficult to distinguish lymphedema from edema. Exsudative enteropathy is confirmed by the elevated 24-h stool alpha1-antitrypsin clearance. Etiology remains unknown. Very rare familial cases of PIL have been reported. Diagnosis is confirmed by endoscopic observation of intestinal lymphangiectasia with the corresponding histology of intestinal biopsy specimens. Videocapsule endoscopy may be useful when endoscopic findings are not contributive. Differential diagnosis includes constrictive pericarditis, intestinal lymphoma, Whipple's disease, Crohn's disease, intestinal tuberculosis, sarcoidosis or systemic sclerosis. Several B-cell lymphomas confined to the gastrointestinal tract (stomach, jejunum, midgut, ileum) or with extra-intestinal localizations were reported in PIL patients. A low-fat diet associated with medium-chain triglyceride supplementation is the cornerstone of PIL medical management. The absence of fat in the diet prevents chyle engorgement of the intestinal lymphatic vessels thereby preventing their rupture with its ensuing lymph loss. Medium-chain triglycerides are absorbed directly into the portal venous circulation and avoid lacteal overloading. Other inconsistently effective treatments have been proposed for PIL patients, such as antiplasmin, octreotide or corticosteroids. Surgical small-bowel resection is useful in the rare cases with segmental and localized intestinal lymphangiectasia. The need for dietary control appears to be permanent, because clinical and biochemical findings reappear after low-fat diet withdrawal. PIL outcome may be severe even life-threatening when malignant complications or serous effusion(s) occur.
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PMID:Primary intestinal lymphangiectasia (Waldmann's disease). 1829 65

Pseudoachalasia is a rare clinical entity with clinical, radiographic, and manometric features often indistinguishable from achalasia. Primary adenocarcinomas arising at the gastroesophageal junction or a tumor of the distal esophagus are the most frequent causes of pseudoachalasia. Rarely, processes other than esophagogastric cancers including chronic idiopathic intestinal pseudo-obstruction, amyloidosis, sarcoidosis, Chagas' disease, vagotomy, antireflux surgery, pancreatic pseudocysts, von Recklinghausen's neuroinomatosis, gastrointestinal stromal tumor, and other malignancies and rare genetic syndromes, may lead to the development of pseudoachalasia. Secondary achalasia is extremely rare, with less than 100 cases reported in the literature so far. Gastrointestinal manifestations in primary or secondary amyloidosis include abdominal pain, diarrhea, constipation, malabsorption, obstruction, motility disturbance, intestinal infarction, perforation, and hemorrhage; however, gastrointestinal tract involvement is asymptomatic in most instances. We present here a rare case of multiple myeloma initially presenting with dysphagia because of esophageal amyloidosis and manometric findings typical of achalasia.
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PMID:A rare case of multiple myeloma initially presenting with pseudoachalasia. 1920 46

The lecture outlines the pathogenesis, clinic characteristics, diagnosis and treatment of hydropic-ascitic syndrome (HAS) associated with the violation of absorption and exudation of protein in the small intestine. At absorption violation in patients we can find not only HAS also we can find there chronic diarrhea, violation of trophics. Increased exudation of plasma protein in bowel lumen develops at inherent violation of patency of lymph vessels (limfangiektase), blockade of lymphatic apparatus of the intestines, with tuberculosis, amyloidosis, sarcoidosis, retroperitonealnom fibrosis, endometriosis, Uippl disease and tumor infiltration of lymphatic system and mesentery. Secondary enteropatiya with protein loss (EPL) is possible in patients with constrictiv perikardite and right ventricular failure of various etiology. Establishment of correct diagnosis with the help of HAS enterogene biopsy of small intestine mucosa, coloring amyloid in biopsy sampling and PAS-positive inclusions, immunological tests for celiac disease and heavy chains - alpha. In patients with chronic diarrhea and malabsorption symptoms most likely cause of the HAS is celiac. In the absence of data for celiac disease should be kept in mind the small bowel disease chronic lymphoproliferative diseases. Treatment depends on basic disease. Good effect of providing enteral nutrition. Disorders of water-electrolyte exchange eliminates intravenous glucose-electrolyte solutions. The main method of removing gipoproteinemy when EPL was prolonged intravenous proteincontents solutions and temporary use of corticosteroids.
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PMID:[Diagnosis and treatment of hydropic-ascitic syndrome in patients with bowel pathology]. 2020 12

Vitamin D is a fat-soluble steroid hormone that is crucial for human health and has recently generated controversy regarding its role in human health and disease. In this Special Article, we discuss our dermatologic perspective on vitamin D in a question-and-answer format. We discuss methods of obtaining vitamin D, including cutaneous photobiosynthesis, diet, and supplements and include the recent US Institute of Medicine recommendations. Other reviewed topics include the associations among skin pigmentation, climate, photoprotection, and vitamin D levels. We also elaborate on the popular interest in sun exposure as a method of normalizing vitamin D levels in the context of the risks of solar and artificial radiation. We also discuss groups at risk for vitamin D inadequacy, the need for testing serum vitamin D levels, and the role of phototherapy in patients with malabsorption conditions and hypervitaminosis D, with a focus on patients with sarcoidosis. Finally, we summarize our recommendations on vitamin D.
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PMID:A dermatologist's perspective on vitamin D. 2242 13

Clinically recognizable gastrointestinal (GI) system involvement with sarcoidosis is extremely rare. We present a case of a 51-year-old Caucasian male who was evaluated for abdominal pain, elevated liver enzymes, leukopenia, thrombocytopenia, severe peripheral arthralgias, and chronic watery diarrhea. He had a history of mediastinal and periaortic lymphadenopathy. Extensive laboratory work up for liver diseases, infections, malabsorption and a bone marrow biopsy was essentially unremarkable. Eso-gastroduodenoscopy was unremarkable. Colonoscopy showed scattered right colon ulcerations and erythema. The terminal ileum appeared normal. Biopsies from the duodenum, terminal ileum, and colon showed intramucosal non-caseating granulomas with focal multinucleate giant cell formation in a background of chronic active duodenitis, ileitis, and colitis. Liver biopsy showed moderate non-specific chronic hepatitis with non-caseating granulomas present within portal and lobular parenchyma. The clinical presentations, along with biopsy results were suggestive of sarcoidosis. The patient was started on prednisone and had a significant improvement in his symptoms including diarrhea.
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PMID:Sarcoidosis: an extremely rare cause of granulomatous enterocolitis. 2325 26

Knowing the clinical warning signs of immunodeficiency (ID) in adulthood is crucial for early detection of the over 200 forms of primary ID known to date. Many of these congenital diseases with a genetic background already manifest in childhood. Antibody deficiency diseases represent an important exception, with common variable immunodeficiency (CVID) being the most common form of ID. The median age of onset of CVID is 24 years. Unfortunately, the delay in diagnosis is still in excess of 4 years. General practitioners as well as allergists play a particularly important role in early detection. ID patients who present primarily with signs of immune dysregulation pose an even greater diagnostic challenge. Thus, autoimmune cytopenia, inflammatory bowel diseases, or sarcoid-like granulomatous inflammation can be the first manifestation in up to 20 % of ID patients. Secondary forms of ID [e. g., due to long-term corticosteroid treatment, HIV-infection, leukemia, lymphoma, nephrotic syndrome, malabsorption syndrome] need to be differentiated from primary antibody deficiency. Considering the overlap with allergic symptoms [ID accompanied by a susceptibility to eczema, elevated total IgE, blood eosinophilia], the present article discusses, the clinical warning signs of ID, the first diagnostic steps required and the option of further diagnostic work up at specialist centers for complex cases, as well as the treatment options for such cases.
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PMID:Immunodeficiency in adults a practical guide for the allergist. 2612 May 36


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