Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis, in utero fetal demise and neonatal distress. In some cases without hydrops, neurological signs occur in the first week of life and lead to death within 3 months. Less common signs of the disease are hepatosplenomegaly, ichthyosis, arthrogryposis and facial dysmorphy. We describe a preterm neonate with Gaucher disease homozygous for R463H mutation in GBA gene who showed severe neurologic signs in addition to refractory thrombocytopenia, hepatosplenomagaly, direct hyperbilirubinemia, facial dysmorphy and ichthyosiform skin abnormalities in addition to having thrombosis in portal and splenic veins possibly due to homozygosity for C677T mutation in MTHFR gene. To the best of our knowledge, this is the first case homozygous for the GBA R463H mutation resulting in Gaucher disease with a concomitant homozygous MTHFR C677T mutation.
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PMID:A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene. 2182 41

The authors analyze their experience with diagnosis and treatment of 182 children with syndrome of portal hypertension (PH) from 1991 through 2010. Two groups of patients were considered. The first group included 74 newborns with high risk of the development of PH (infants after catheterization of the umbilical vein who endured omphalitis with USI diagnosed thrombosis of the portal vein, patients with cavernous transformation of the portal vein, hepatosplenomegaly). The second group consisted of 108 children aged from 6 months to 14 years with realized syndrome of PH. Investigation of hemostasis (international normalized ratio, fibrinogen, VIII and IX factors) immunogram of the 2nd level, determination of gene polymorphism (prothrombin, V factor, MTHFR, PAI-1), Bonacini index were included in the complex of examination, besides clinical and biochemical analyses of blood. The degree of disturbance of hemodynamics in the portal system was estimated by the data of USI, dopplerography, FEGS. It was established that children with extrahepatic portal hypertension have markers of hereditary thrombophilia in 98% of cases. Bonacini index allows determination of early signs of the development of secondary fibrosis of the liver in children with PH without using liver biopsy.
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PMID:[A differentiated approach to the diagnosis and treatment of portal hypertension in children]. 2223 65