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,
dark urine is present from birth [1,
Methods and materials
The diagnosis of alkaptonuria has been confirmed in all children by gas chromatography - mass spectrometry (GC-MS Agilent 5975C - 7820,
Agilent Technologies Inc.,
The study was approved by the Independent Research Ethical Committee of the Medical University of Gdańsk (NKBBN / 388/2016).
No patient had a significant knee injury. MRI of knee joint were prospectively evaluated in eight children (M/F=4/4,
age 9-17yo) diagnosed with AKU.
Imaging was performer without sedation in standard...
MRI did no show pathological changes in knee cartilage in any patient. Minor abnormalities were found in two patients like tendency to lateralization of the patella (confirmed by dynamic ultrasound) and subcutaneous edema over tibial tuberosity.
The MRI image of cartilage in AKU children is normal,
which suggests that degenerative changes that are significant in this disease appear in adulthood.
In the available literature there are no reports of cartilage status in AKU children.
Kujawa Mariusz MD,
2nd Department of Radiology,
Medical University of Gdansk - Gdansk Poland. Address: Mariana Smoluchowskiego 17,
Poland Tel.: 58 349 36 80 Fax: 58 349 36 90
et al (2002) Natural History of Alkaptonuria.
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Srsen S (2001) Increased urolithiasis in patients with alkaptonuria in childhood.
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Le Quan Sang KH,
et al (2015) Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria....