Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0020473 (hyperlipidemia)
 15,891 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We discuss the case of a two-month-old girl admitted with complaints of progressive pallor, generalized body swelling and pale colored stool since the neonatal period. On examination, severe pallor, chubby cheeks and moderate hepatomegaly were noted. Investigations revealed isolated anemia, transaminitis, conjugated hyperbilirubinemia, prolonged prothrombin time and hyperlipidemia. She died due to severe sepsis, shock, and pulmonary hemorrhage. An autopsy revealed characteristic histopathology findings of cystic fibrosis in the liver, lungs, and pancreas. Genetic analysis performed on autopsy tissue was positive for F508del compound heterozygous (WT/F508del) mutation, confirming the diagnosis of cystic fibrosis.
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PMID:An Infant with Severe Anemia and Hypoalbuminemia. 3228 76


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