■Maroteaux-Lamy综合征(粘多糖贮积症VI型;MPSVI)是一种导致进行性增大的慢性疾病,炎症,或几个组织和器官的疤痕,直到它们崩溃。在大多数情况下,患有MPSVI的婴儿没有症状。儿童MPSVI的早期体征和症状通常在生命的最初几个月发展。MPSVI会影响身体的各个系统,包括骨骼,心脏,和呼吸系统。作者旨在在我们的研究中描述儿童福利教学医院MPSVI患者的临床和基因型表型发现,医疗城市综合体。\'
■单中心研究是在\'儿童福利教学医院进行的,医疗城市综合体从2016年11月到2022年5月。这项研究从伊拉克招募了72名MPSVI患者,都在20岁以下。作者调查了社会人口统计学特征,血液学实验室结果,基因表型发现,和临床特征,并评估MPS6疾病的严重程度和进展。
■72名伊拉克MPSVI患者参与了这项研究,研究样本的平均年龄为6.38±3.4(0.3-19)岁。血缘率为94.4%。在研究中,女性占56.9%,体重指数和枕额头围的Z评分分别为-2.66和1.2。诊断时的筋膜特征,“粗相”(90.3%),多发性骨形成障碍(93%),身材矮小(94.4%),和反复呼吸道感染(91.6%),是入选患者中最常见的临床特征。最常见的突变是(互补DNA:c.753C>G,蛋白质效应:p.(Tyr2*)或p.(Tyr251Term),和密码子交叉表:过早终止密码子,或纯合停止无义突变/外显子N.3)(33/69(47.82%))。此外,较低的体重和身高读数与MPSVI疾病的进展和严重阶段之间存在统计学上显著的相关性.
■作为在伊拉克进行的第一项具有足够样本量的MPSVI患者的研究,该研究提供了重要的临床和基因表型发现,并揭示了加强MPSVI诊断的必要性,包括更新的分子分析和监测多系统参数,异常合并症,以及进展和严重程度。
UNASSIGNED: Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI; MPS VI) is a chronic illness that causes progressive enlargement, inflammation, or scarring of several tissues and organs until their collapse. In most cases, an infant with MPS VI shows no symptoms. The early signs and symptoms of MPS VI in children often develop in the first few months of life. MPS VI affects various systems in the body, including the skeletal, cardiac, and respiratory systems. The authors aim in our
study to describe the clinical and genotypic-phenotypic findings of MPS VI patients in \'children Welfare Teaching Hospital, Medical City Complex.\'
UNASSIGNED: The single-center
study was conducted at the \'children Welfare Teaching Hospital, Medical City Complex\' from November 2016 to May 2022. The research recruited 72 MPS VI patients from Iraq, all under 20. The authors investigated the sociodemographic characteristics, hematological lab results, gene-phenotype findings, and clinical features and evaluated the severity and progression of the MPS 6 disease.
UNASSIGNED: Seventy-two Iraqi MPS VI patients were involved in the
study, and the average age of the
study sample was 6.38±3.4 (0.3-19). The consanguinity rate was 94.4%. In the research, females comprised 56.9% of the patients, and the Z-scores for body mass index and occipital-frontal head circumference were -2.66 and 1.2. The fascial features at diagnosis, \'coarse facies\' (90.3%), dysostosis multiplex (93%), short stature (94.4%), and recurrent respiratory infections (91.6%), were the most common clinical features among the enrolled patients. The most frequent mutation was (complementary DNA: c.753C>G, protein effect: p.(Tyr2*) or p.(Tyr251Term), and the codon cross-tabulation: premature stop codon, or homozygous stop nonsense mutation/exon N.3) (33/69 (47.82%)). Furthermore, a statistically significant correlation existed between lower weight and height readings and the progressed and severe stages of the MPS VI illness.
UNASSIGNED: As the first research in Iraq with a sufficient sample size of MPS VI patients, the investigation presented important clinical and gene-phenotype findings and revealed the necessity for enhancing the diagnosis of MPS VI, including the updated molecular analysis and monitoring the multisystem parameters, aberrant comorbidities, and the progression and severity.