Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019158 (hepatitis)
 30,205 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Type I familial amyloid polyneuropathy (FAP), or Andrade's disease, is an inherited autosomal dominant disease, always fatal, involving mixed progressive polyneuropathy associated with systemic amyloid deposits. The disease is secondary to mutations of a gene (located on chromosome 18) which encodes for a serum protein, transthyretin. This variant protein is essentially (> 90%) produced in the liver and constitutes the biological marker of the disease. Many surgical teams have established a liver transplantation program for this non-cirrhotic pathology. Between January and August 1994, we performed three orthotopic liver transplantations (OLT) in patients with FAP. The patients were men aged between 30 and 33 years and the mean duration of symptoms was 3 years. The diagnosis of FAP was confirmed by rectal biopsy and detection of the genetic mutation (PCR analysis). All patients presented a severe sensory, motor and autonomic neuropathy with major digestive and urologic dysfunction. Two other patients were not accepted for OLT because of advanced disease with ulcerous lesions of the inferior limbs and cardiopathy. All patients survived with excellent post-operative hepatic function. One month after OLT, one patient had hepatocellular rejection which responded favorably to steroids. Another patient developed post-transfusional B hepatitis 10 months after the graft, but without major hepatic lesions. In the three cases, we observed stabilization of the peripheral neuropathy and an objective improvement of the autonomic affection (neurogenic bladder, diarrhea). The patients who did not undergo transplantation died within a year. Thus, in patients suffering from familial amyloid polyneuropathy OLT must be performed, especially in the early stage of the disease and especially in young patients before serious neurological complications set in.
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PMID:[Orthotopic liver transplantation for familial Portuguese amyloidosis]. 928 38

India is amidst a demographic transition showing an ageing trend. This will increase non-communicable diseases including diabetes which is already showing an increasing trend. With scanty literature existing on elderly diabetics (> 60 years of age), it was decided to study the clinico-laboratory and complication profile of this group of patients. Fifty consecutive elderly diabetics were studied and evaluated for ECG, chest x-ray, blood sugar, urea, creatinine, lipid profile, proteinuria, motor nerve conduction velocity and autonomic neuropathy. Duration of diabetes varied from one month to 28 years. Fifty-six per cent of the patients presented with classical symptoms of polyuria, polyphagia and polydipsia. Hypertension was present in 40% and cataract in 54% of the patients. Eighteen per cent were obese, 52% had evidence of peripheral neuropathy while 56% had autonomic neuropathy. Background diabetic retinopathy was present in 56%, pre-proliferative retinopathy and maculopathy in 4% each; hypertensive retinopathy in 10% of patients; 44% had microproteinuria and 8% had chronic renal failure. Hypercholesterolaemia was present in 64% and hypertriglyceridaemia in 42% of the patients with 26% having coronary artery disease. Sixty per cent were harbouring infections--20% had foot infections, 14% had tuberculosis and 10% had urinary tract infections. Ninety-two per cent of the patients were aware of their disease but 62% were not aware of the complications and of the need for strict dietary and drug compliance. There was a high prevalence of associated diseases viz, osteoarthritis, cataract, hypertension, hepatitis and parkinsonism. Therefore, this study brings out the need to have a holistic and multidisciplinary approach for management of elderly diabetics who constitute a heterogeneous group with distinct health care problems.
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PMID:Clinical and laboratory profile of diabetes in elderly. 1065 95

GOALS To investigate the relationships between gastric emptying and autonomic dysfunction in hepatic cirrhosis and to assess the effects of cisapride on gastric emptying in cirrhotic patients. STUDY Twenty-four cirrhotic patients (8 patients in each Child-Pugh classification) and 25 healthy controls were enrolled. All the patients had viral (B or C) hepatitis. Patients with DM, alcoholic cirrhosis, active peptic ulcer, gastric malignancy and pyloric obstruction were excluded by esophagogastroduodenoscopy. Parasympathetic and sympathetic functions were assessed by the criteria set forth by Ewing and Clark. Drugs affecting GI motility and smoking were discontinued 48 hours and 12 hours prior to the study respectively. A solid-phase of gastric emptying study was conducted by scintigraphic method for the calculation of gastric half-emptying time (GET1/2). RESULTS The study revealed that 9 patients with Child-Pugh B and C cirrhosis had autonomic neuropathy and none of Child-Pugh A cirrhosis had autonomic neuropathy. Prolonged GET1/2 was noted in cirrhotics compared with the control group (p < 0.05). However, there was significant difference between 9 patients (Child B-C) with autonomic neuropathy compared with patients 15 patients without autonomic neuropathy. Again there was a significant difference in GET1/2 between Child A cirrhotic and Child B-C cirrhotic whether they had autonomic neuropathy or not. Cisapride decreased GET1/2 significantly in cirrhotic patients (Child B-C cirrhotic). Clearly, patients with autonomic neuropathy in Child B-C cirrhosis had significantly reduced GET1/2 after cisapride administration. Even though cisapride decreased GET1/2 in patients with Child B-C cirrhosis without autonomic neuropathy, this was not significant. CONCLUSION Autonomic neuropathy in advanced cirrhosis from viral hepatitis may cause prolonged gastric emptying. Cisapride can shorten gastric emptying time in such patients.
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PMID:Gastric emptying time and the effect of cisapride in cirrhotic patients with autonomic neuropathy. 1254 4

A 35-year-old female patient presented with the following symptoms of Holmes-Adie syndrome: photophobia,enlargement of the left pupil unresponsive to light, Achilles areflexia. The pilocarpine test was positive. No tumor or other neurological abnormality was found. She had a 19-year history of autoimmune hepatitis. Flares up were observed following each 3 deliveries. At age of 31 she presented with diarrhea and weight loss. Abdominal tumor was detected by ultrasound. The surgically removed tumor was histologically a benign mesenteric multicystic lymphangioma.Simultaneously, celiac disease was diagnosed.Gluten-free diet resulted in a significant improvement of celiac disease,but not of autoimmune hepatitis. Autonomic neuropathy was proven by standard cardiovascular tests. The patient was a homozygous carrier for HLA DQ2 antigen characteristic for celiac disease and heterozygous for HLA DR3 B8 frequent in autoimmune liver diseases. Our novel observation on association of Holmes-Adie syndrome with autoimmune hepatitis and celiac disease is suggestive for a common immunological background for all three entities present in a patient with mesenteric multicystic lymphangioma.
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PMID:Holmes-Adie syndrome, autoimmune hepatitis and celiac disease: a case report. 1655 28

Wilson disease a rare autosomal recessive inherited disorder of copper metabolism, is characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is often fatal if it is not recognized early and treated when it is symptomatic. Gitelman syndrome is also an autosomal recessive kidney disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. Hereditary sensory autonomic neuropathy type IV (HSAN-IV), a very rare condition that presents in infancy, is characterized by anhidrosis, absence of pain sensation, and self-mutilation. It is usually accompanied by developmental delay and mental retardation. We report a case of Wilson disease manifested as fulminant hepatitis, acute pancreatitis, and acute kidney injury in a 15-year-old boy comorbid with HSAN-IV and Gitelman syndrome. Such concurrence of three genetic diseases is an extremely rare case.
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PMID:Wilson Disease Comorbid with Hereditary Sensory Autonomic Neuropathy Type IV and Gitelman Syndrome. 3133 15