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)

Tow age-matched groups of patients with sickle cell anaemia (SS), one with persistent gross splenomegaly (PGS) and the other without palpable spleens, were studied to determine the clinical and laboratory features associated with PGS. The group with PGS had significantly larger mean liver size, higher serum indirect bilirubin levels, but lower mean haematocrit, blood cell counts and serum albumin: globulin ratio when compared to the control group without splenomegaly. Large palpable livers (greater than 6 cm below the coastal margin) among the PGS group tended to be associated with digital clubbing. A retrospective analysis of their case files showed that patients with PGS had had predominantly anaemic crises while those without splenomegaly had had predominantly vaso-occlusive crises over a 2-year period. No difference was found between the 2 groups, in respect of anthropometric data, prevalence of hepatomegaly or frequency of hospital admissions and blood transfusions.
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PMID:Clinical and laboratory features associated with persistent gross splenomegaly in Nigerian children with sickle cell anaemia. 238 63

A study of 510 patients in Scotland and northeastern England with histological evidence of alcohol-induced liver disease showed no difference in the age of presentation between males and females. Single men and widowed females were particularly susceptible to alcoholic liver disease. The social class distribution was similar to the population in general. Women were more reluctant to volunteer a history of alcoholism than men, they had a higher incidence of previous psychiatric illness (usually due to alcohol abuse) and they developed liver disease at lower consumption thresholds of alcohol than men. Patients under 40 years of age were more likely to have alcoholic fatty liver and less likely to have active cirrhosis than those over 40. Most often, the presenting symptoms were non-specific and tended to be related to the gastrointestinal system, particularly in women. Five per cent of patients were asymptomatic and 14% came to hospital for conditions other than alcoholic liver disease. Important clues to asymptomatic alcoholic liver disease included hepatomegaly, clubbing of the fingers and abnormal liver function tests. Gastro-oesophageal varices accounted for 40% of instances of haemorrhage and the mortality from upper gastrointestinal bleeding was 17%. Anaemia was the most common haematological abnormality. Alcoholic hepatitis was observed more frequently in the Glasgow area then elsewhere.
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PMID:Alcoholic liver disease in Scotland and northeastern England: presenting features in 510 patients. 660 94

Sixty negroid patients with liver cirrhosis were examined for their cutaneous features at the University College Hospital, Ibadan, Nigeria. When compared with age and sex matched controls, the cirrhotic patients had significantly lower body temperature, onycholysis and hyperpigmented palmo-plantar macular areas (p < 0.05). Until now, these features have not been previously associated with liver cirrhosis. Other cutaneous signs such as sparse silky hair, female public hair pattern, digital clubbing, leuconychia, ankle oedema and corneal jaundice are found more commonly in cirrhotic patients (p < 0.05) and have been previously documented. All these features in a middle-aged man with hepatomegaly may be of added distinctive value particularly in many rural centres in tropical countries where facilities for definitive histological diagnosis are frequently lacking. The relevance of some of these cutaneous features in the light of the pattern described in Caucasians is also discussed.
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PMID:Cutaneous manifestations of liver cirrhosis in an African (negroid) population. 856 May 89

A 5-year-old Chinese girl with 1-year history of progressive jaundice, steatorrhoea and pruritus was referred. Physical examination showed failure to thrive, marked jaundice, finger clubbing and hepatomegaly. There was laboratory evidence of cholestatic jaundice and autoimmunity, with marked elevation of alkaline phosphatase (ALP) and gamma-glutamyl transferase (gammaGT). Histology of percutaneous liver biopsy revealed hepatitis around the portal triad, as well as features of liver cirrhosis. Primary sclerosing cholangitis (PSC) overlapping with autoimmune hepatitis (AIH) was suspected. Endoscopic retrograde cholangiopancreatography (ERCP) was not feasible as there was no weight-appropriate ERCP scope available. Magnetic resonance cholangiopancreatography (MRCP) was performed and revealed areas of irregularity and slight attenuation of the right and left hepatic ducts, representing stricturing, in keeping with PSC. PSC/AIH overlap syndrome was diagnosed in this child in which MRCP has contributed to its diagnosis.
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PMID:Autoimmune hepatitis/primary sclerosing cholangitis overlap syndrome in a child: diagnostic usefulness of magnetic resonance cholangiopancreatography. 1581 80

The author reports the history of a family of six children, of whom two, the eldest and the fifth, are normal; three died, a boy when 6 months old and two girls when 9 and 10 years old, from the same familial disease that also attacked another boy now 7 years old. The essential features of this disease are hypertrophy of both liver and spleen, chronic icterus with evidence of salts and bile-pigments in the blood and urine, retardation of physical, mental, and sexual development, slight deafness in one case and clubbing of the fingers in another. This condition is a good example of biliary cirrhosis of the liver.After reviewing recent French observations, the author recalls the large contribution of English authors on the subject.HE THEN DISTINGUISHES THREE TYPES OF FAMILIAL CIRRHOSIS: Laennec's type with enlarged liver, the type of splenomegalic anascitic and anicteric cirrhosis, resembling Banti's syndrome, and the commonest type or biliary cirrhosis.The author describes particular histological lesions, and when dealing with differential diagnoses, excludes dyslipoidic, polycoric, and other acquired cirrhosis in children. He then summarizes the relationships between this disease and the obstructive cirrhosis to a congenital defect of the bile-ducts, the cirrhosis in young Indians, the syndrome of hepatic lenticular degeneration, and the syndrome of cirrhosis of the liver combined with haemangiomatosis. Finally, after recalling the close analogy of the condition with renal dwarfism, the author shows how the interpretation of these relationships may throw light on the pathogenesis of various progressive congenital diseases.
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PMID:Familial Hepatitis and Chronic Jaundice: (Section for the Study of Disease in Children). 1999 37

POEMS syndrome is a rare paraneoplastic syndrome due to a plasma cell dyscrasia, which includes peripheral neuropathy, organomegaly, endocrinopathy, monoclonal plasma cell proliferation and skin changes. Elevated levels of VEGF (vascular endothelial growth factor) in the serum of patients are suggested to play a pivotal role in the pathophysiology. A 60-year-old male presented with POEMS syndrome and painful edema, skin thickening of the distal extremities and livid-erythematous discoloration. The sclerotic changes resulted in a severe limitation of joint flexibility. Furthermore, the patient showed clubbing, white nails and a facial lipoatrophy. In addition to the skin changes, the patient was diagnosed with polyneuropathy, monoclonal gammopathy (type lambda), high elevated VEGF-levels, hepatomegaly, lymphadenopathy, hypothyreosis, hypogonadism and thrombocytosis in the course of POEMS syndrome. Treatment with 4 cycles of bortezomib and dexamethasone resulted in improvement of symptoms.
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PMID:[POEMS syndrome. An interdisciplinary clinical challenge]. 2191 31

Introduction: Situs inversus totalis is an uncommon anomaly which exist a complete transposition of organs and it's occasionally associated with congenital heart diseases, such as tetralogy of fallot. Pheochromocytoma is a rare neuroendocrine tumor with an annual incidence of 2-8 cases per million people and for years has been studied its relationship with the hypoxic pathway. Case Report: A 29 year old male with a history of tetralogy of fallot corrected at 10 years and situs inversus totalis. He was admitted to hospital with a progressive story of four months of constipation, palpitations, headache, dyspnea and sweating. Physical examination revealed a thinned man with peripheral cyanosis, clubbing and signs of decompensated congestive heart failure as hepatomegaly, legs edema, multifocal systodiastolic murmurs, abdominal distension and jugular venous distention. The echocardiogram shows severe right ventricular dysfunction and severe pulmonary hypertension. Furthermore, abdominal computed tomography shows right adrenal mass. Elevated metanephrines and catecholamines confirmed the diagnosis of pheochromocytoma. Surgical removal is decided and preoperative management begins with alpha-adrenergic blockade, however the patient had a hemodynamic decompensation with an unfavorable evolution. Discussion: In conclusion, there are few reports of cyanotic congenital heart disease with pheochromocytoma. Several studies show a significant association between both of them due to chronic hypoxia leads sustained hyperresponsiveness in adrenal medulla and it would cause the tumor. Special preoperative management of pheochromocytoma is recommended when there underlying heart disease and congestive heart failure. We present the first international report of tetralogy of fallot and pheochromocytoma in a patient with situs inversus totalis.
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PMID:Tetralogy of Fallot and pheochromocytoma in a situs inversus totalis: An unusual association. 2777 99