Benjelloun Fatima-Zohra Madani, Chabraoui Layachi, Kriouile Yamna
Unité de Neuropédiatrie, Service de Pédiatrie II, Hôpital d'Enfants de Rabat, Maroc.
Laboratoire de Biochimie, Centre d'Etude des Maladies Héréditaires du Métabolisme, CHU Ibn Sina Rabat, Maroc.
Pan Afr Med J. 2017 Oct 30;28:185. doi: 10.11604/pamj.2017.28.185.11086. eCollection 2017.
X-linked adrenoleukodystrophy (X-ALD) is a severe neurodegenerative disease, due to mutations in the ABCD1 gene. It manifests as a damage to the central and peripheral nervous system, adrenal insufficiency and testicular damage in children. Diagnosis is based on the determination of long-chain saturated fatty acids. Early diagnosis is essential because it defines treatment accessibility according to disease stage.
We implemented a X-ALD diagnostic test program in Morocco at the Children's Hospital and at the Central Laboratory for inherited and metabolic diseases in Rabat. The program was based around three priorities, namely: the recruitment of patients, diagnosis and awareness. Diagnosis is based on three protocols: a protocol for symptomatic cases, a protocol for asymptomatic cases and a protocol for heterozygous women.
During the first three years after implementation of our X-ALD diagnostic test program, we diagnosed the disease in seven families, with nine boys and three heterozygous women. All children were diagnosed with demyelinating brain. All heterozygous women were asymptomatic. Different symptom-based therapies were established.
X-ALD is a rare disease. Our diagnostic program has helped to diagnose a significant number of cases, hence its importance. Campaigns focused on raising awareness among health care professionals will enable a better understanding of the disease and a more accurate diagnosis as well as to improve access to health care for a higher number of patients.
X连锁肾上腺脑白质营养不良（X-ALD）是一种严重的神经退行性疾病，由ABCD1基因突变引起。它在儿童中表现为中枢和周围神经系统损伤、肾上腺功能不全以及睾丸损伤。诊断基于长链饱和脂肪酸的测定。早期诊断至关重要，因为它根据疾病阶段确定治疗的可及性。
我们在摩洛哥的儿童医院和拉巴特的遗传性和代谢性疾病中央实验室实施了一项X-ALD诊断测试项目。该项目围绕三个重点展开，即：患者招募、诊断和宣传。诊断基于三个方案：有症状病例方案、无症状病例方案和杂合子女性方案。
在我们的X-ALD诊断测试项目实施后的前三年，我们在七个家庭中诊断出了这种疾病，其中有九个男孩和三个杂合子女性。所有儿童均被诊断为脱髓鞘性脑病。所有杂合子女性均无症状。建立了不同的基于症状的治疗方法。
X-ALD是一种罕见疾病。我们的诊断项目有助于诊断大量病例，因此其具有重要意义。针对提高医护人员认识的宣传活动将有助于更好地了解这种疾病，进行更准确的诊断，并改善更多患者获得医疗服务的机会。
