Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thirty-five Black patients with cirrhosis of the liver were admitted to the professorial unit over a 1-year period and were included in a carefully planned prospective study. Men predominated over women in a ratio of 3:1. Alcohol consumption in the form of African beer was significantly higher in cirrhotic patients than in a control population. The clinical picture was neither predominantly that of alcoholic nor of cryptogenic cirrhosis. Hepatomegaly, porphyria cutanea tarda, ascites, splenomegaly and oesophageal varices were common. There was a complete absence of gynaecomastia, spider naevi and liver palms. Histologically, the majority of patients had macronodular cirrhosis, and only 1 patient had micronodular cirrhosis and minimal fatty change. Hepatitis B surface antigen (HbsAg) was not detected in any patient, despite a positive HbAg rate of 4% in Black African blood donors, determined by means of the same laboratory technique.
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PMID:Cirrhosis of the liver in Rhodesian Blacks. 88 20

We reviewed a series of 109 reported Japanese cases of "plasma cell dyscrasia with polyneuropathy and endocrine disorder." This syndrome shows 1) polyneuropathy with increased protein level in the cerebrospinal fluid and sometimes papilledema, 2) endocrinological symptoms, including skin pigmentation, sclerosis, hypertrichosis, gynecomastia, impotence, amenorrhea, decreased glucose tolerance, edema, pleural effusion and ascites, 3) hepatomegaly, splenomegaly and lymphadenopathy, 4) polycythemia, leukocytosis and thrombocytosis, 5) osteosclerotic changes and 6) plasma cell dyscrasia. Plasma cell dyscrasia is considered to be the cardinal change in this syndrome. Most of the patients have low levels of IgG lambda or IgA lambda M-protein in the serum and a slightly increased number of plasma cells in the bone marrow. The clinical course is usually chronic. Surgical excision or irradiation of the local lesion and administration of corticosteroids and/or anti-cancer drugs are effective in improving polyneuropathy and other systemic symptoms. This syndrome is apparently more common in Japan than in the United States and European countries. The pathogenesis of the association of a variety of symptoms in this syndrome is still unclear.
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PMID:Plasma cell dyscrasia with polyneuropathy and endocrine disorder: clinical and laboratory features of 109 reported cases. 631 93

Bumetanide and furosemide were compared for efficacy in reducing edema due to congestive heart failure in 28 patients (21 receiving bumetanide and seven receiving furosemide) in a long-term study for periods from one week to 18 months. In both groups the patients showed decreases in body weight, abdominal girth, edema, hepatomegaly, blood pressure, and heart rate. Commonly observed decreases frequently achieved statistical significance, more often with bumetanide, but the differences between treatments were rarely statistically significant. Both drugs were generally well tolerated. A breast nodule and gynecomastia were each reported once in the bumetanide group as was gynecomastia in one patient who had been on furosemide, all remotely related to test drugs. Soft stools, flatulence, mild constipation, and diminished vision each reported once in the bumetanide group were judged to be unrelated or remotely related to the drug therapy. Tendencies toward hypokalemia, hypochloremia, alkalosis, and hyperuricemia without clinical gout were deemed the result of the pharmacologic action of the diuretics. Others were attributable to the underlying disease state of these patients. Both diuretics proved to be effective in the treatment of cardiac edema and other manifestations of heart failure. Bumetanide treatment beyond six months in 11 patients indicated continued safety as well as efficacy.
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PMID:Comparative efficacy and safety of bumetanide and furosemide in long-term treatment of edema due to congestive heart failure. 733 79

A Thai male, aged 36 yrs, presented with chronic progressive sensorimotor polyneuropathy and mixed osteosclerotic and lytic lesions at the lumbar vertebrae (L). Generalized hyperpigmentation, bilateral gynecomastia, small testes, hepatomegaly, lymphadenopathy and ascites were observed. Computerized tomography of the lumbosacral spines revealed osteosclerotic changes at L3,4,5 with spiculated bony proliferation at the transverse processes and posterior components of the spines. Histopathological examination of the lesion was compatible with plasmacytoma. Proliferative vasculopathy was demonstrated in plasmacytoma. Serum immunofixation showed an IgM monoclonal gammopathy. Further investigation demonstrated secondary adrenal insufficiency with low level of plasma testosterone. The patient responded well to local radiotherapy and intermittent chemotherapy with melphalan and prednisolone. The histopathological findings of proliferative vasculopathy suggested the important role of capillary leakage as a factor responsible for systemic manifestations in the POEMS syndrome. The reported cases of this syndrome among Thais are summarized.
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PMID:POEMS syndrome: a case with proliferative vasculopathy and a review of cases Thailand. 796 31

We report a unique case of KAS syndrome presenting as hypersexuality and elevated serum creatine kinase (CK). None of the other members of the patient's family had KAS. The patient had engaged in sexual behavior 4 approximately 5 times a week since his marriage. He did not have gynecomastia or hepatomegaly. Neurological examination revealed facial twitching and tongue atrophy and fasciculations. Mild to moderate muscular atrophy and weakness were evident in the proximal portion of the upper and the distal portion of the lower extremities. Deep tendon reflexes were absent, as were sensory disturbance and sphincter dysfunction. Laboratory data showed mild elevation of transaminase (GOT 113 U/L, GPT 69 U/L) and extreme elevation of CK (4,600 U/L) in serum. Electromyography and muscle biopsy from the left biceps showed chronic neurogenic atrophy. Genetic analysis showed increased expansion of a CAG repeat (44 repeats) in exon 1 of the androgen receptor gene. We diagnosed KAS syndrome based on the genetic analysis. This case is important in illustrating the clinical varieties of KAS syndrome, as well as the importance of genetic analysis in KAS syndrome cases presenting with atypical manifestations and without a family history.
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PMID:[A case of Kennedy-Alter-Sung (KAS) syndrome presenting as hypersexuality and elevated serum CK: usefulness of genetic analysis]. 874 52

A 17-year-old boy had a 3-year history of diabetes mellitus, malabsorption syndrome, and skin changes consisting of induration, hyperpigmentation, and hypertrichosis on the anterior aspect of both thighs, lower abdomen, and scrotum. Physical examination found hypogonadism, hepatomegaly, gynecomastia, growth retardation, and ankle edema. There was no neuropathy or plasma cell dyscrasia. However, the characteristic skin changes and the combination of symptoms suggest polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome. This is a rare multisystemic disorder of obscure pathogenesis and no conspicuous heredity. Overproduction of vascular endothelial growth factor is thought to cause microangiopathy, neovascularization, and accelerated vasopermeability causing the multiorgan deterioration. Cyclophosphamid cytostatic therapy seems beneficial.
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PMID:POEMS in childhood. 1665 Feb 24

Hepatitis B is an important health problem all over the world as well as in our country. Entecavir is a nucleoside analog used in the treatment of chronic hepatitis B. We present a case of a 55-year-old male patient who developed unilateral gynecomastia while under treatment with entecavir. Physical examination was unremarkable except for minimal hepatomegaly. Laboratory examination revealed: HbsAg: positive, HBeAg: negative, anti-HBe: positive, HBV DNA: 800,000 copies/ml, total anti-HDV: negative, and alanine aminotransferase: 105 U/L (normal range: 0-41). The treatment was started with pegylated interferon. During the follow-up, transaminases did not regress and HBV DNA was found to still be highly positive at the sixth month evaluation. Pegylated interferon treatment was stopped and entecavir was started at a dose of 0.5 mg/day. Six months after the initiation of entecavir treatment, the patient presented with a painful swelling in the right breast. On physical examination, there was painful gynecomastia on the right side, which was confirmed with mammography and ultrasound of the breast tissue. The patient was not taking any drug that may have caused gynecomastia. Hormonal status of the patient was normal. Laboratory values were normal. We considered that this unilateral gynecomastia might be an adverse effect of entecavir. Since the patient had a rapid viral and biochemical response to entecavir, the drug was continued under close follow-up and there was no further progression of the gynecomastia.
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PMID:A case of gynecomastia due to entecavir. 2093 40