Nasrallah Fahmi, Zidi Wiem, Feki Moncef, Kacem Samia, Tebib Neji, Kaabachi Naziha
Laboratory of Biochemistry, Rabta Hospital, Jebbari, 1007 Tunis, Tunisia; University of Tunis El Manar, Campus Universitaire, 2092 Tunis, Tunisia.
Laboratory of Biochemistry, Rabta Hospital, Jebbari, 1007 Tunis, Tunisia; University of Tunis El Manar, Campus Universitaire, 2092 Tunis, Tunisia.
Pediatr Neonatol. 2017 Dec;58(6):484-489. doi: 10.1016/j.pedneo.2016.08.011. Epub 2017 Feb 17.
Zellweger syndrome (ZS) is a peroxisome biogenesis disorder attributed to a mutation of the PEX genes family. The incidence of this disease in Africa and the Arab world remains unknown. This contribution is aimed at describing the clinical phenotype and biochemical features in Tunisian patients with ZS in order to improve the detection and management of this severe disorder.
A total of 52 patients diagnosed with ZS and 60 age- and sex-matched healthy controls were included in this study. Patients were recruited during the past 21 years, and the diagnosis of ZS was based on clinical and biochemical characteristics. Plasma very long chain fatty acids (VLCFA) were analyzed using capillary gas chromatography. The estimated incidence of ZS was calculated using the Hardy-Weinberg formula.
The estimated incidence of ZS is 1/15,898 in Tunisia. Age at diagnosis varied between 3 days and 18 months. Severe neurological syndrome, polymalformative features, and hepatodigestive signs were observed in 100%, 67.9%, and 32% of patients, respectively. Values for plasma C26:0 and C26:0/C22:0 and C24:0/C22:0 ratios were noticeably higher in ZS patients than in controls. Distributions of values were completely different for C26:0 (0.10-0.37 vs. 0.001-0.009), C26:0/C22:0 ratio (0.11-1.29 vs. 0.003-0.090), and C24:0/C22:0 ratio (1.03-3.18 vs. 0.4-0.90) in ZS patients versus controls, respectively.
This study highlights the high incidence of ZS in Tunisia and the possibility of simple and reliable biochemical diagnosis, thus permitting early genetic counseling for families at risk.
泽尔韦格综合征（ZS）是一种过氧化物酶体生物发生障碍疾病，归因于PEX基因家族的突变。该疾病在非洲和阿拉伯世界的发病率仍然未知。本研究旨在描述突尼斯ZS患者的临床表型和生化特征，以改善对这种严重疾病的检测和管理。
本研究纳入了52例确诊为ZS的患者和60例年龄及性别匹配的健康对照。患者是在过去21年中招募的，ZS的诊断基于临床和生化特征。使用毛细管气相色谱法分析血浆极长链脂肪酸（VLCFA）。使用哈迪-温伯格公式计算ZS的估计发病率。
突尼斯ZS的估计发病率为1/15,898。诊断时的年龄在3天至18个月之间。分别在100%、67.9%和32%的患者中观察到严重神经综合征、多畸形特征和肝消化体征。ZS患者血浆C26:0、C26:0/C22:0和C24:0/C22:0比值明显高于对照组。ZS患者与对照组的C26:0（0.10 - 0.37对0.001 - 0.009）、C26:0/C22:0比值（0.11 - 1.29对0.003 - 0.090）和C24:0/C22:0比值（1.03 - 3.18对0.4 - 0.90）的值分布完全不同。
本研究突出了突尼斯ZS的高发病率以及简单可靠的生化诊断可能性，从而可为有风险的家庭提供早期遗传咨询。
