Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023380 (lethargy)
 5,697 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 7-year-old adult male ferret had progressive hair loss that was bilaterally symmetric. Also clinically evident were severe dehydration, polydipsia, muffled heart sounds, weak femoral pulses, hepatomegaly, lethargy, weakness, temporal muscular atrophy, dyspnea, and weakness. The blood profile of the ferret indicated profound leukopenia, eosinopenia, and high phosphorus, BUN, creatinine, and potassium concentrations, as well as high aspartate transaminase activity; the albumin concentration was low. The serum cortisol concentration was 8.1 micrograms/dl. Necropsy and histologic findings confirmed a diagnosis of hyperadrenocorticism, complicated by dilatative cardiomyopathy, chronic active hepatitis, and renal disease.
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PMID:Hyperadrenocorticism in a ferret. 365 2

A total of 133 children aged between less than a month to 14 years presenting consecutively with hepatitis were prospectively studied over a 6-year period. Most cases were acute and presented at the icteric phase. The peak incidence was in very young infants whose illness had to be differentiated from congenital biliary tract obstruction. The older children exhibited the usual manifestations of lethargy, anorexia and tenderness over the liver area to varying degrees. There were 2 cases of chronic active hepatitis in children aged 13 and 14 years, one a female and the other a male. Their illness was controlled with steroid therapy. The serum biochemistry was characteristic in all cases. Serological tests revealed that about 55% of the children had antibody to hepatitis A virus but only 4% demonstrated HAV-specific IgM, while 15% had hepatitis B surface antigen (HBsAg) and 23% demonstrated antibody to core antigen (HBcAg). While most of the children with acute hepatitis made a full clinical and biochemical recovery, 2 have persistent HBs antigenaemia. There were 3 deaths in children who had fulminant hepatitis. Our results show that exposure to hepatitis A virus appears to be prevalent in Nigerian children and probably occurs quite early in life, and infections with hepatitis B virus and perhaps other hepatotropic viruses are also not uncommon. The surveillance of such children and long-term follow-up are necessary. There is already compelling evidence to indicate that hepatocellular carcinoma, prevalent among young adults in our environment, may be related to hepatitis B antigenaemia persisting over several years. The need for an effective vaccine against hepatitis B virus infection cannot, therefore, be over-emphasized.
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PMID:Patterns of childhood hepatitis in the Nigerian African. 653 16

A 56-year-old Saudi male was admitted with abnormal liver chemistry values and a > 5-month history of lethargy, malaise, anorexia, and jaundice. Extensive investigations did not establish an etiological diagnosis. Liver histology confirmed the clinically apparent aggressive hepatitis with fibrosis but gave no clue to its etiology. The patient was empirically treated with alpha-interferon for presumed non-A, non-B hepatitis, with clinical and biochemical worsening. Interferon was discontinued and the patient was started on immunosuppression. Dramatic clinical and biochemical improvement occurred, with normalization of the liver chemistry within 4 weeks. The patient has been followed-up for 12 months and has not suffered a relapse. This case highlights the etiological heterogeneity of chronic active hepatitis. The entity of autoimmune chronic active hepatitis is unclear, and perhaps it is better defined as steroid-responsive hepatitis. Steroid-responsive hepatitis should always be considered in cases of cryptogenic chronic active hepatitis.
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PMID:Idiopathic chronic active hepatitis: a diagnostic and therapeutic dilemma. 787 13

Autoimmune chronic active hepatitis is a rare type of chronic active hepatitis which occurs with a bimodal age distribution (10 to 30 or > or = 50 years) most frequently in women. It is characterized by negative markers for other possible (e.g. viral) etiologies, hypergammaglobulinemia and a number of circulating autoantibodies. According to the latter, several subgroups can be discriminated today. Histology shows chronic active hepatitis with chronic, sometimes plasma-cell-rich infiltration of portal tracts and piece-meal necroses. Symptoms and signs are classically non-specific and include general malaise, lethargy and fatigue. Accompanying autoimmune diseases may be present. The disease is today, however, also frequently diagnosed in an early, asymptomatic stage. Cause(s) and pathogenetic mechanism(s) of the increasingly heterogeneous appearing disease remain unknown. Recent observations seem to indicate that as yet undetermined (exogenous) substance(s) and the hepatitis C virus may, at least in certain subgroups, trigger autoimmune reactions, which may then perpetuate on the basis of a permissive (immuno)genetic background. Untreated, the disease is, in general, progressive, leads to cirrhosis and shows a mortality of up to > or = 50% in 2 to 4 years. Signs potentially indicating a nonfavorable prognosis include high inflammatory activity and the presence of cirrhosis at diagnosis. Typically, immunosuppressive therapy with corticosteroids (with or without azathioprine) results in remission of inflammatory, but usually not fibro-genetic activity with its potential for cirrhosis. Exacerbations after cessation of treatment are not infrequent (> or = 50%), and indefinite therapy is required in a number of patients, despite its potential for unwanted effects (e.g. osteopenia). Such therapy may increase the 5-year survival rate to > 80%. Liver transplantation remains the sole therapeutic option in end stage disease.
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PMID:[Autoimmune chronic active hepatitis]. 845 13

We clarified the clinical and immunogenetical differences between patients with autoimmune hepatitis (AI-CAH), and patients with type C chronic active hepatitis (C-CAH) and type B chronic active hepatitis (B-CAH) who were positive for autoantibodies and hyperglobulinemia. While histories of blood transfusion, intravenous drug abuse and tattoo were seen frequently in patients with type C-CAH, they were rare in patients with AI-CAH. The severe subjective symptoms including anorexia, lethargy, icterus, high fever and extrahepatic manifestations, and severe abnormality of biochemical data were seen in AI-CAH predominantly. Ongoing or past infection of HCV was seen in only 14% of patients with AI-CAH. HLA-DR4 was the most frequently associated with AI-CAH (89%) and 6 DR4-negative patients were positive for DR2. HLA-DNA typing showed that there was no significant difference in the frequency of DR4-associated Dw-alleles between the patients and controls who were positive for DR4. These findings suggest that the basic amino acid at position 13, which is present only on the DR2 and DR4 B1 molecules (Arg on DR2 and His on DR4), may contribute to the susceptibility to autoimmune hepatitis of Japanese. Thus, we conclude that AI-CAH is a genetically restricted, disease, and different from C-CAH which is a viral infectious disease.
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PMID:Comparison of the clinical and immunogenetic features between patients with autoimmune hepatitis and patients with type C chronic active hepatitis. 848 32

Autoimmune chronic active hepatitis, now often refereed to as simply autoimmune hepatitis has been recognised for nearly 50 years. Typically, the disease arises in a young woman who presents with an acute hepatitic illness and complains of lethargy, arthralgia, oligomenorrhoea, and fluctuating jaundice. For the purposes of clinical trials and research, guidelines for establishing the diagnosis have been published recently, but in clinical practise it is diagnosed when there is a histological picture of chronic active hepatitis together with immunological features (high levels of immunoglobulin G and serum autoantibodies) in the absence of other known causes of the histological picture. Controlled trials in the 1970s confirm the efficacy of immunosuppressive therapy in terms of improvement of both symptoms and survival. Treatment protocols based on prednisolone and azathioprine have been refined over the past 20 years so that the prognosis is now good and side effects from treatment are usually minimal.
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PMID:Autoimmune chronic active hepatitis. 1184 55

Lipoid congenital adrenal hyperplasia (lipoid CAH), a rare disorder of steroid biosynthesis, is the most severe form of CAH. In this disorder the synthesis of glucocorticoids, mineralocorticoids and sex steroids is impaired which result in adrenal failure, severe salt wasting crisis and hyperpigmentation in phenotypical female infants irrespective of genetic sex. In this report, we presented a 28-day-old phenotypic female infant, which referred with lethargy, failure to thrive and electrolyte abnormalities. Considering the clinical and biochemical findings, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid and mineralocorticoid and sodium chloride was initiated. During follow-up, she had good clinical condition, but at 6 years of age, she refers with hypertension and adrenal insufficiency because of arbitrary drug discontinuation by mother. In ultrasonography an abdominal mass (the testicles) was reported. Chromosome study showed 46XY pattern. Orchiectomy was performed. We recommended that in cases with clinical presentation of adrenal insufficiency if there is not the facility to determine the karyotype, repeated ultrasonography perform during follow-up. In addition, investigating the genetic bases of the disorder would help us to determine the pathogenesis of lipoid CAH in our community. It would be helpful in prenatal diagnosis and treatment of the disorder to prevent its related comorbidities.
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PMID:A case of congenital lipoid adrenal hyperplasia. 2289 Nov 54

Context. Pseudohypoaldosteronism type 1 (PHA1) is a life-threatening disease that causes severe hyperkalemia and cardiac arrest if not treated appropriately or if diagnosis is missed. Objective. To report a case of a newborn with vomiting and lethargy, ultimately diagnosed with pseudohypoaldosteronism. Patient. This case presented to the ED at an age of 14 days in hypovolemic shock. There was a family history of sudden infant death, her sister who was diagnosed with CAH and passed away at 3 months of age despite regular hormone replacement. Our patient had cardiac arrest in ED, due to hyperkalemia; while receiving fluid boluses, cardiopulmonary resuscitation was initiated. After stabilization, diagnostic workup demonstrated persistently low sodium, acidosis, and high potassium, which required peritoneal dialysis. Based on these findings, the patient was diagnosed with CAH. It turned out later that the patient had PHA1. Two years later, the patient had a new sibling with the same disease diagnosed at birth and started immediately on treatment without any complication. Conclusions and Outcome. This case highlights the significant diagnostic and therapeutic challenges in treating children with PHA1. Adrenal crisis is not always CAH; delayed diagnosis can lead to complication and even death. The presence of high plasma renin activity, aldosterone, and cortisol, along with the presence of hyponatremia and hyperkalemia, established the diagnosis of PHA type 1 and ruled out CAH.
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PMID:Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia. 2690 17