Title |
Diagnosis of secondary amyloidosis in alkaptonuria
|
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Published in |
Diagnostic Pathology, September 2014
|
DOI | 10.1186/s13000-014-0185-9 |
Pubmed ID | |
Authors |
Lia Millucci, Lorenzo Ghezzi, Giulia Bernardini, Daniela Braconi, Pietro Lupetti, Federico Perfetto, Maurizio Orlandini, Annalisa Santucci |
Abstract |
Alkaptonuria (AKU) is an inborn error of catabolism due to a deficient activity of homogentisate 1,2-dioxygenase. Patients suffer from a severe arthropathy, cardiovascular and kidney disease but other organs are affected, too. We found secondary amyloidosis as a life-threatening complication in AKU, thus opening new perspectives for its treatment. We proved that methotrexate and anti-oxidants have an excellent efficacy to inhibit the production of amyloid in AKU model chondrocytes. Owing to the progressive and intractable condition, it seems important to detect amyloid deposits at an early phase in AKU and the choice of specimens for a correct diagnosis is crucial. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 2 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Practitioners (doctors, other healthcare professionals) | 1 | 50% |
Members of the public | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 2% |
Unknown | 42 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 10 | 23% |
Student > Ph. D. Student | 6 | 14% |
Student > Bachelor | 5 | 12% |
Student > Postgraduate | 3 | 7% |
Professor | 2 | 5% |
Other | 7 | 16% |
Unknown | 10 | 23% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 13 | 30% |
Biochemistry, Genetics and Molecular Biology | 7 | 16% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 5% |
Engineering | 2 | 5% |
Computer Science | 2 | 5% |
Other | 3 | 7% |
Unknown | 14 | 33% |