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)

A 13-year-old boy, known case renal stone disease came with the complaints of abdominal pain along with low grade fever. On examination, hepatosplenomegaly was noted while his lab reports showed a low hemoglobulin with a raised ESR. His blood and urine cultures showed no growth. Viral markers, autoimmune profile, C and p ANCA were all negative apart from a raised serum IgG level. Ultrasound abdomen showed a hyperechoic liver with an enlarged spleen along with splenic varices and minimum ascites. Ultrasound hepatic doppler was normal. Serum AFP levels were normal while workup for Wilson's disease was negative. Fibroscan showed F4 fibosis. CT scan abdomen showed an enlarged left lobe of the liver along with an enlarged spleen. His EGD revealed varices. So liver biopsy was done that was suggestive of chronic granulomatous disease with ZN stain testing negative for TB.PPD, urine for AFB were both negative. Serum ACE levels were raised. He started ATT therapy but his condition did not improve. So, on the suspicion of hepatic sarcoidosis, he started on steroids and had a drastic improvement in his condition.
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PMID:Hepatic Sarcodosis presenting as portal hypertension in a young boy. 2956 70

Sarcoidosis is a granulomatous disease with various extrapulmonary manifestations. We describe a 51-year-old African American woman with a history of cutaneous sarcoidosis admitted with bicytopenia. Suspicion for systemic sarcoidosis was established after contrast-enhanced computerized tomography of the chest, abdomen and pelvis showed a pulmonary nodule, diffuse lymphadenopathy and hepatosplenomegaly. Cytopenias in sarcoidosis, when present, may reflect bone marrow infiltration. Hence, biopsy was obtained and bone marrow sarcoidosis was diagnosed. This manifestation, in spite of ethnic and gender predilection, is rarely seen. As with other forms of sarcoidosis, treatment comprises of corticosteroids. Abbreviations: ANCA: Antineutrophil cytoplasmic antibody; BM: Bone marrow; BMS: Bone marrow sarcoidosis; CT: Computerized tomography; HIV: Human immunodeficiency virus; HLA: Human leukocyte antigen; MRI: Magnetic resonance imaging.
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PMID:Bone marrow involvement in sarcoidosis: an elusive extrapulmonary manifestation. 3106 93