Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series

Orphanet Journal of Rare Diseases

Muhammed Dağkıran¹  Sibel Basaran²  Hüseyin Tuğsan Ballı³  Sevcan Erdem⁴  Halise Neslihan Önenli Mungan⁵  Sebile Kılavuz⁶  Deniz Kor⁶  Fatma Derya Bulut⁶  Atil Bisgin⁷ 

[1] Department of Ear, Nose and Throat Diseases, Faculty of Medicine, Çukurova University, Adana, Turkey;Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Çukurova University, Adana, Turkey;Department of Radiology, Faculty of Medicine, Çukurova University, Adana, Turkey;Division of Pediatric Cardiology, Department of Pediatrics, Faculty of Medicine, Çukurova University, Adana, Turkey;Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Çukurova University, 01130, Sarıçam, Adana, Turkey;Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Çukurova University,, Adana, Turkey;Medical Genetics Department of Medical Faculty, Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Adana, Turkey;

关键词: Elosulfase alfa;    Enzyme replacement therapy;    Mucopolysaccharidosis IVA;    Morquio A syndrome;   

DOI  :  10.1186/s13023-021-01761-0

来源: Springer

【 摘 要 】

BackgroundThis case series includes longitudinal clinical data of ten patients with Morquio A syndrome from south and southeastern parts of Turkey, which were retrospectively collected from medical records. All patients received enzyme replacement therapy (ERT). Clinical data collected included physical appearance, anthropometric data, neurological and psychological examinations, cardiovascular evaluation, pulmonary function tests, eye and ear-nose-throat examinations, endurance in the 6-min walk test and/or 3-min stair climb test, joint range of motion, and skeletal investigations (X-rays, bone mineral density).ResultsAt the time of ERT initiation, two patients were infants (1.8 and 2.1 years), five were children (3.4–7.1 years), and three were adults (16.5–39.5 years). Patients had up to 4 years follow-up. Most patients had classical Morquio A, based on genotypic and phenotypic data. Endurance was considerably reduced in all patients, but remained relatively stable or increased over time in most cases after treatment initiation. Length/height fell below normal growth curves, except in the two infants who started ERT at ≤ 2.1 years of age. All patients had skeletal and/or joint abnormalities when ERT was started. Follow-up data did not suggest improvements in skeletal abnormalities, except in one of the younger infants. Nine patients had corneal clouding, which resolved after treatment initiation in the two infants, but not in the other patients. Hepatomegaly was reported in seven patients and resolved with treatment in five of them. Other frequent findings at treatment initiation were coarse facial features (N = 9), hearing loss (N = 6), and cardiac abnormalities (N = 6). Cardiac disease deteriorated over time in three patients, but did not progress in the others.ConclusionsOverall, this case series with Morquio A patients confirms clinical trial data showing long-term stabilization of endurance after treatment initiation across ages and suggest that very early initiation of ERT optimizes growth outcomes.

【 授权许可】

CC BY