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)

This report represents the Brompton Hospital experience of infants and neonates with critical pulmonary valve stenosis and aortic valve stenosis. There were 25 patients with critical pulmonary valve stenosis and 8 with critical aortic valve stenosis. Critical pulmonary stenosis: Among the 25 patients up to one year of age, 11 were girls and the commonest presenting symptom was cyanosis seen in 15, the commonest physical sign being a systolic ejection murmur with a single 2nd sound. A more detailed analysis of the symptoms, signs and findings at special investigation will be presented. The evolution of a satisfactory technique of operation will be indicated in these critically ill patients, and the late follow-up will be presented. Critical aortic stenosis: There were 8 patients in this group all of whom were male. Dyspnoea was the commonest presenting symptom with a systolic ejection murmur and hepatomegaly as the commonest signs. All patients in this group underwent open aortic valvotomy and/or valvuloplasty with 3 deaths. A late follow-up of the survivors will be presented. In summary, a series of 33 patients up to the age of one year with critical obstruction of either the pulmonary or aortic valves will be presented. (his is one of the larger series to be reported in this age group.
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PMID:[Critical outflow valve obstruction under the age of one year (author's transl)]. 108 66

Whether prolonged cholestasis is followed by hepatic cirrhosis is still controversial. We have studied two unrelated children who have had cholestasis for 15 years, but neither of whom have developed cirrhosis. Both have severe growth retardation, peculiar facies, pulmonic stenosis, transitory renal tubular acidosis, and vitamin D-resistant rickets. The patients presented in infancy with hepatomegaly and direct hyperbilirubinemia; liver biopsy at that time revealed cholestasis and paucity of bile ducts. Subsequent serial liver biopsies have continued to demonstrate cholestasis, but there has been no evidence of cirrhosis. Electron microscopy has revealed swollen and blunted microvilli of the canalicular membrane of the hepatocyte. The patients have had elevated bile acids in the serum as well as a reversed ration of tri- to dihydroxy bile acids. Treatment with cholestyramine and phenobarbital has brought about symptomatic relief from severe pruritus and excoriation and has lowered the level of serum bile acids, although they are still above the normal range. These findings suggest that cholestasis accompanied by an elevated and reversed bile acid ratio does not universally cause hepatic cirrhosis.
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PMID:Intrahepatic cholestasis for 15 years without cirrhosis. 745 22

A wide spectrum of genetic causes may lead to nonimmune hydrops fetalis (NIHF), and a thorough phenotypic and genetic evaluation are essential to determine the underlying etiology, optimally manage these pregnancies, and inform discussions about anticipated prognosis. In this review, we outline the known genetic etiologies of NIHF by fetal organ system affected, and provide a systematic approach to the evaluation of NIHF. Some of the underlying genetic disorders are associated with characteristic phenotypic features that may be seen on prenatal ultrasound, such as hepatomegaly with lysosomal storage disorders, hyperechoic kidneys with congenital nephrosis, or pulmonary valve stenosis with RASopathies. However, this is not always the case, and the approach to evaluation must include prenatal ultrasound findings as well as genetic testing and many other factors. Genetic testing that has been utilized for NIHF ranges from standard chromosomal microarray or karyotype to gene panels and broad approaches such as whole exome sequencing. Family and obstetric history, as well as pathology examination, can yield additional clues that are helpful in establishing a diagnosis. A systematic approach to evaluation can guide a more targeted approach to genetic evaluation, diagnosis, and management of NIHF.
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PMID:A system-based approach to the genetic etiologies of non-immune hydrops fetalis. 3108 99