Herber Silvani, Schwartz Ida Vanessa D, Nalin Tatiéle, Oliveira Netto Cristina Brinkmann, Camelo Junior José Simon, Santos Mara Lúcia, Ribeiro Erlane Marques, Schüler-Faccini Lavinia, Souza Carolina Fischinger Moura de
Postgraduate Program in Pediatrics and Adolescent Health, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; BRAIN Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Department of Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Brazilian MSUD Network, Porto Alegre, RS, Brazil.
J Pediatr (Rio J). 2015 May-Jun;91(3):292-8. doi: 10.1016/j.jped.2014.08.010. Epub 2014 Dec 12.
To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011.
In this retrospective study, patients were identified through a national reference laboratory for the diagnosis of MSUD and through contact with other medical genetics services across Brazil. Data were collected by means of a chart review.
Eighty-three patients from 75 families were enrolled in the study (median age, 3 years; interquartile range [IQR], 0.57-7). Median age at onset of symptoms was 10 days (IQR 5-30), whereas median age at diagnosis was 60 days (IQR 29-240, p=0.001). Only three (3.6%) patients were diagnosed before the onset of clinical manifestations. A comparison between patients with (n=12) and without (n=71) an early diagnosis shows that early diagnosis is associated with the presence of positive family history and decreased prevalence of clinical manifestations at the time of diagnosis, but not with a better outcome. Overall, 98.8% of patients have some psychomotor or neurodevelopmental delay.
In Brazil, patients with MSUD are usually diagnosed late and exhibit neurological involvement and poor survival even with early diagnosis. We suggest that specific public policies for diagnosis and treatment of MSUD should be developed and implemented in the country.
对1992年至2011年间确诊的巴西枫糖尿症（MSUD）患者样本进行特征分析。
在这项回顾性研究中，通过一个全国性的MSUD诊断参考实验室以及与巴西各地其他医学遗传学服务机构的联系来确定患者。通过查阅病历收集数据。
研究纳入了来自75个家庭的83名患者（中位年龄3岁；四分位间距[IQR]为0.57 - 7）。症状出现的中位年龄为10天（IQR 5 - 30），而诊断时的中位年龄为60天（IQR 29 - 240，p = 0.001）。只有3名（3.6%）患者在临床表现出现之前被诊断出来。对早期诊断的患者（n = 12）和未早期诊断的患者（n = 71）进行比较发现，早期诊断与家族史阳性以及诊断时临床表现的患病率降低有关，但与更好的预后无关。总体而言，98.8%的患者存在某种精神运动或神经发育迟缓。
在巴西，MSUD患者通常诊断较晚，即使早期诊断也会出现神经系统受累且生存率较低。我们建议在该国制定并实施针对MSUD诊断和治疗的具体公共政策。
