Moiseev S V, Ismailova D S, Moiseev A S, Bulanov N M, Karovaikina E A, Nosova N R, Fomin V V
I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), Moscow, Russia.
M.V. Lomonosov Moscow State University, Moscow, Russia.
Ter Arkh. 2018 Dec 30;90(12):17-22. doi: 10.26442/00403660.2018.12.000003.
To study the frequency of cornea verticillata in patients with Fabry disease and it's relation to the severity of the disease and the types of mutation in the GLA gene.
We studied 69 adult (over 18 years) patients with a classic form of Fabry disease that was confirmed by enzymatic and molecular genetic studies. There were 39 males and 30 females. The median age was 39 years [30.0; 50.0]. The severity of Fabry disease was assessed using the Mainz Severity Score Index (MSSI) with a maximum value of 76 points. Depending on the MSSI score, patients were classified into mild (<20), moderate (20-40), and severe (>40) clinical categories.
At least one classic symptom of Fabry disease was present in 88.4% of patients. The majority of patients had the missense mutations of the GLA gene. Cornea verticillata was found in 65.2% of patients and occurred with a similar frequency in males (56.4%) and females (76.7%; p=0.07). Cornea verticillata was the single classic symptom of Fabry disease in only 4.9% of cases, while the rest of the patients presented with angiokeratoma, neuropathic pain and/or hypohidrosis. The frequency of classic symptoms of Fabry disease, as well as renal disease (with the exception of terminal chronic renal failure), brain and heart damage was similar in patients with and without cornea verticillata. Median MSSI scores were also similar in patienths with and without cornea verticillata (20.0 and 18.5 points, respectively; p=0.92). Similar results were obtained in males (26.5 and 30.0 points, p=0.97) and females (16.0 and 16.0 points, p=0.45). The frequency of cornea verticillata did not differ in patients with different types of mutations in the GLA gene.
Cornea verticillata occured in 65% of adult patients with Fabry disease, was usually accompanied by the other classic symptoms of the disease, and was not associated with the severity of the disease.
研究法布里病患者中涡状角膜的发生率及其与疾病严重程度和GLA基因突变类型的关系。
我们研究了69例经酶学和分子遗传学研究确诊为典型法布里病的成年（18岁以上）患者。其中男性39例，女性30例。年龄中位数为39岁[30.0；50.0]。用法布里病严重程度评分指数（MSSI）评估法布里病的严重程度，最高分为76分。根据MSSI评分，将患者分为轻度（<20分）、中度（20 - 40分）和重度（>40分）临床类别。
88.4%的患者至少有一项法布里病的典型症状。大多数患者有GLA基因的错义突变。65.2%的患者发现有涡状角膜，男性（56.4%）和女性（76.7%）的发生率相似（p = 0.07）。涡状角膜仅在4.9%的病例中是法布里病的唯一典型症状，其余患者表现为血管角质瘤、神经性疼痛和/或少汗。有和没有涡状角膜的患者中法布里病的典型症状以及肾脏疾病（终末期慢性肾衰竭除外）、脑和心脏损害的发生率相似。有和没有涡状角膜的患者的MSSI中位数评分也相似（分别为20.0分和18.5分；p = 0.92）。在男性（26.5分和30.0分，p = 0.97）和女性（16.0分和16.0分，p = 0.45）中也得到了类似的结果。GLA基因不同突变类型的患者中涡状角膜的发生率没有差异。
65%的成年法布里病患者出现涡状角膜，通常伴有该病的其他典型症状，且与疾病严重程度无关。
