The Challenges of Diagnosing and Following Wilson Disease in the Presence of Proteinuria
Autor: | Gary Silber, Soofia Khan, Bruce Morgenstern, Michael L. Schilsky, Tamir Miloh |
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Jazyk: | angličtina |
Rok vydání: | 2016 |
Předmět: |
Pathology
medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities medicine.medical_treatment Case Report Disease 030204 cardiovascular system & hematology urologic and male genital diseases Targeted therapy 03 medical and health sciences 0302 clinical medicine Glomerulopathy medicine otorhinolaryngologic diseases Alport syndrome Proteinuria Hepatology business.industry Wilson Gastroenterology nutritional and metabolic diseases Heavy metals medicine.disease Zinc Pediatrics Perinatology and Child Health Elevated transaminases 030211 gastroenterology & hepatology medicine.symptom business Dyslipidemia Copper |
Zdroj: | Pediatric Gastroenterology, Hepatology & Nutrition |
ISSN: | 2234-8840 2234-8646 |
Popis: | The coexistence of Wilson disease with Alport syndrome has not previously been reported. The diagnosis of Wilson disease and its ongoing monitoring is challenging when associated with an underlying renal disease such as Alport syndrome. Proteinuria can lead to low ceruloplasmin since it is among serum proteins inappropriately filtered by the damaged glomerulus, and can also lead to increased urinary loss of heavy metals such as zinc and copper. Elevated transaminases may be attributed to dyslipidemia or drug induced hepatotoxicity. The accurate diagnosis of Wilson disease is essential for targeted therapy and improved prognosis. We describe a patient with a diagnosis of Alport syndrome who has had chronic elevation of transaminases eventually diagnosed with Wilson disease based on liver histology and genetics. |
Databáze: | OpenAIRE |
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