Keywords:
Musculoskeletal joint, MR, Diagnostic procedure, Congenital
Authors:
M. Kujawa, D. Świętoń, M. Piskunowicz, M. Grzywińska, J. Wierzba; Gdansk/PL
DOI:
10.26044/ecr2019/C-0686
Aims and objectives
Alkaptonuria (AKU) is a rare autosomal recessive genetic disease that involves the disruption of tyrosine metabolism.
It is caused by mutation of the homogentisin acid dioxygenase (HGD) gene.
Abnormal HGD enzyme activity leads to excess homogentisin acid in the body which results in cartilage damage.
It can also lead to damage to the heart valves,
and the appearance of kidney stones.
MSK symptoms usually appear after the second decade of life,
however,
dark urine is present from birth [1,
2].
Determining the time of cartilage degeneration in AKU is very important for choosing the optimal age for start therapy,
which may have significant side effects[3].
In the available literature there are no reports of cartilage status in AKU children[4].
The knees are,
after the spine,
the most frequently occupied area in the AKU,
and because of the less complicated anatomical structure are best suited for the assessment of subtle changes in the articular cartilage in imaging modalities [5].
Therefore the aim of this study was to evaluate the occurrence of early degenerative changes of the cartilage of the knee joint in children with alkaptonuria.