A Mimic of Ankylosing Spondylitis, Ochronosis: Case Report and Review of the Literature.
A Mimic of Ankylosing Spondylitis, Ochronosis: Case Report and Review of the Literature.
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DOI：
10.1007/s11882-021-01002-1
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发表时间：
2021-03-05
影响因子：
5.5
通讯作者：
Tarrant TK
中科院分区：
文献类型：
--
作者：
Chu P;Cuellar MC;Bracken SJ;Tarrant TK
同时性和碱尿症是同一种情况的表现--一种罕见的常染色体隐性遗传病，由体质上缺乏同源1，2-双加氧酶(HGD)而导致的同源二酸(HGA)积聚所致。在同时性中，HGA经历自氧化和酶氧化形成一种同时性色素，积聚在软骨和结缔组织中。开始时，有同质性酸尿和软骨及其他结缔组织的色素沉着。在后来的几年里，脊柱和大关节的全身性骨关节炎，被称为慢性关节病。尿中HGA的定量检测和HGD基因的突变分析证实了这一诊断。皮肤表现的鉴别诊断之一是外源性时代病，这是一种由某些化学物质引起的皮肤局限性色素沉着。至于腰椎表现，可能与强直性脊柱炎(AS)有相似之处，包括间盘间隙减少和腰椎前凸度丧失；然而，时序失调会使骶髂关节受损，腰椎将显示致密的晶状盘状钙化，并伴有真空盘现象和广泛的突起。在这里，我们提出了一个可能患有时代症的患者，经过多年的强直性脊柱炎治疗却没有反应，我们提供了关于时代症发病机制、诊断和治疗的最新文献综述。
Ochronosis and alkaptonuria are manifestations of the same condition – a rare autosomal recessive disorder resulting from a constitutional lack of homogentisate 1,2-dioxygenase (HGD) with the consequent accumulation of homogentisic acid (HGA). In ochronosis, HGA undergoes autoxidation as well as enzymatic oxidation to form an ochronotic pigment that accumulates in cartilage and connective tissues. In the beginning, there is homogentisic aciduria and pigmentation of cartilages and other connective tissues. In later years, generalized osteoarthritis of the spine and large joints, termed ochronotic arthropathy, develops. The diagnosis is confirmed by quantitative measurement of HGA in urine and mutation analysis of the HGD gene. One of the differential diagnoses for the skin findings is exogenous ochronosis, a limited hyperpigmentation of skin caused by some chemicals. As for the lumbar spine findings, there can be radiographic similarities with ankylosing spondylitis (AS) including reduced intervertebral disc spaces and loss of lumbar lordosis; however, ochronosis will spare the sacroiliac joint, and the lumbar spine will show dense, wafer-like disk calcification with a vacuum disc phenomenon and broad syndesmophytes. Here, we present a case of a patient with probable ochronosis that was treated many years as ankylosing spondylitis without response, and we provide a review of the current literature on ochronosis pathogenesis, diagnosis, and treatment.
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影响因子：
4
作者：
Sahin, G;Milcan, A;Erdogan, C
通讯作者：
Erdogan, C
DOI：
10.1002/ajmg.1320020207
发表时间：
1978-01-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
SRSEN, S;CISARIK, F;HARMECKO, L
通讯作者：
HARMECKO, L
DOI：
10.1007/8904_2015_437
发表时间：
2015-01-01
期刊：
JIMD REPORTS, VOL 24
影响因子：
--
作者：
Keenan, Craig M.;Preston, Andrew J.;Gallagher, James A.
通讯作者：
Gallagher, James A.
影响因子：
158.5
作者：
Phornphutkul, C;Introne, WJ;Gahl, WA
通讯作者：
Gahl, WA
影响因子：
4.2
作者：
Rosenberg, L. E.
通讯作者：
Rosenberg, L. E.