Mwafi Nesrin, Alasmar Ali, Al-Momani Monther, Alazaydeh Sattam, Alajoulin Omar, Alsalem Mohammad, Kalbouneh Heba
Department of Biochemistry and Molecular Biology, Faculty of Medicine, Mutah University, Alkarak 61710, Jordan.
Department of Urology, Prince Hussein Urology Center, Jordanian Royal Medical Services, Amman 11855, Jordan.
Asian Biomed (Res Rev News). 2021 Jun 30;15(3):129-136. doi: 10.2478/abm-2021-0016. eCollection 2021 Jun.
Alkaptonuria is a rare genetic metabolic disorder due to deficiency of homogentisate 1,2-dioxygenase (HGD), an enzyme catalyzing the conversion of homogentisate to 4-maleylacetoacetate in the pathway for the catabolism of phenylalanine and tyrosine. HGD deficiency results in accumulation of homogentisic acid and its pigmented polymer. Ochronosis is a bluish-black discoloration due to the deposition of the polymer in collagenous tissues. Extensive ochronotic involvement of the Achilles tendon in alkaptonuria and its surgical treatment is rarely reported.
A 43-year-old man presented to our clinic in March 2019 with sudden onset of left Achilles tendon pain with no history of prior trauma. Surgical exploration revealed a complete disruption of the tendon at its attachment to the calcaneus. Black pigmentation was extensive and reached the calcaneal tuberosity, extending about 7 cm from the insertion.
Achilles reconstruction was performed using flexor hallucis longus tendon transfer. The patient experienced uncomplicated healing with satisfactory functional results.
Orthopedic surgeons should be aware of the progressive nature of alkaptonuria. Extensive degenerative changes of the ruptured tendon should be suspected so that physicians can plan tendon repair and facilitate prompt surgical intervention.
黑尿症是一种罕见的遗传性代谢紊乱疾病，因缺乏尿黑酸1,2 -双加氧酶（HGD）所致，该酶在苯丙氨酸和酪氨酸分解代谢途径中催化尿黑酸转化为4 -马来酰乙酰乙酸。HGD缺乏导致尿黑酸及其色素聚合物蓄积。褐黄病是由于该聚合物在胶原组织中沉积而引起的蓝黑色色素沉着。黑尿症患者跟腱广泛褐黄病累及及其手术治疗鲜有报道。
一名43岁男性于2019年3月就诊于我院，突发左跟腱疼痛，无既往外伤史。手术探查发现跟腱在跟骨附着处完全断裂。黑色色素沉着广泛，累及跟骨结节，从附着点延伸约7厘米。
采用踇长屈肌腱转移进行跟腱重建。患者愈合顺利，功能结果满意。
骨科医生应了解黑尿症的进展性。应怀疑断裂肌腱存在广泛的退行性改变，以便医生规划肌腱修复并促进及时的手术干预。
