Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033687 (proteinuria)
 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 38 year old patient presented with fever, myalgic abdominal pain, nose bleeding and acute renal failure since five days. A combination of thrombocytopenia, proteinuria, elevated CrP and creatinin is common in hemorrhagic fever with renal syndrome (HFRS) due to Hantavirus infection. The benigne form is called Nephropathia epidemica. Dialysis is infrequently required by patients with the Puumala virus. Other infection (e.g. malaria, leptospirosis, yellow fever) and systemic diseases (e.g. collagenosis or vasculitis) are considered.
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PMID:[Fever, nosebleeding and myalgic abdominal pain]. 1854

Congenital generalized lipodystrophy (Berardinelli-Seip syndrome) is an autosomal recessive condition, presenting during infancy with generalized loss of fat. We report a 30-year-old female patient with diabetes who has acromegaloid features, prominent umbilicus, prominent muscles, prominent subcutaneous veins, and gross hepatomegaly. Near-total loss of subcutaneous fat was confirmed by whole-body magnetic resonance imaging and laboratory data revealed significant hypertriglyceridemia, uncontrolled diabetes mellitus, and heavy proteinuria with stage IIIa chronic kidney disease. Her blood film revealed thrombocytosis that on further evaluation by bone marrow biopsy was confirmed to be a myeloproliferative neoplasm (MPN); essential thrombocytosis (ET). She also had skin lesions that were proven to be reactive perforating collagenosis and necrobiosis lipoidica diabeticorum. She was managed conservatively and received interferon injections with fair general condition and control of her ET. However, her kidney function deteriorated furthermore to stage V chronic kidney disease requiring regular treatment with hemodialysis. We believe this is a unique case of Berardinelli-Seip syndrome with MPN that could be a coincidental association or part of a new syndrome.
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PMID:Berardinelli-Seip Syndrome and Essential Thrombocytosis: An Unusual Association. 3264 89