Diagnosis of secondary amyloidosis in alkaptonuria

Diagnosis of secondary amyloidosis in alkaptonuria

BACKGROUND 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...

Secondary amyloidosis in leprosy.

Alkaptonuria.

Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA). Characteristically, the excess HGA means sufferers pass dark urine, which upon standing turns black. This is a feature present from birth. Over time patients develop other manifestations of AKU, due to deposition of HGA in co...

Diagnosis of Amyloidosis

premature infant weighing less than about 1,500 g. Help may be obtained by radiological investigations. They may show free air in the abdominal cavity, ranging from small amounts to massive pneumoperitoneum, and patterns indicating intestinal obstruction. At this stage blood cultures frequently give a positive result, so that there is strong indication for surgical intervention and for antibiot...

Amyloidosis: diagnosis and prognosis