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首页> 外文期刊>Journal of paediatrics and child health >The natural history and osteodystrophy of mucolipidosis types II and III.
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The natural history and osteodystrophy of mucolipidosis types II and III.

机译：II型和III型脂血症的自然病史和骨营养不良症。

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AIM: To assess the natural history and impact of the secondary bone disease observed in patients with mucolipidosis (ML) II and III. METHODS: Affected children and adults were ascertained from clinical genetics units around Australia and New Zealand. Diagnoses were confirmed by the National Referral Laboratory in Adelaide. The study encompassed all patients ascertained between 1975 and 2005. Data focussing on biochemical parameters at diagnosis, and longitudinal radiographic findings were sought for each patient. Where feasible, patients underwent clinical review and examination. Examinations included skeletal survey, bone densitometry, and measurement of serum and urine markers of bone metabolism. In a subset of patients, functional assessment using the Pediatric Evaluation and Disability Inventory (PEDI) and molecular analysis of GNPTAB were performed. RESULTS: Twenty-five patients with mucolipidosis were ascertained over a 30-year period. Morbidity and functional outcomes on living patients were described. Serum calcium and phosphate were normal. All, but one patient, had normal alkaline phosphatase. Serum osteocalcin and urine deoxypyridinoline/creatinine were elevated. Two radiological patterns were observed (i) transient neonatal hyperparathyroidism in infants with ML II and (ii) progressive osteodystrophy in patients with ML intermediate and ML III. Molecular analyses of GNPTAB in nine subjects are reported. CONCLUSION: ML is characterised by a progressive bone and mineral disorder which we describe as the 'osteodystrophy of mucolipidosis'. The clinical and radiographic features of this osteodystrophy are consistent with a syndrome of 'pseudohyperparathyroidism'. Much of the progressive skeletal and joint pathology is attributable to this bone disorder.
机译：目的：评估在粘液脂溢性病（ML）II和III中观察到的继发性骨病的自然病史和影响。方法：从澳大利亚和新西兰附近的临床遗传单位确定受影响的儿童和成人。诊断得到阿德莱德国家转诊实验室的确认。这项研究涵盖了1975年至2005年期间确定的所有患者。数据侧重于诊断时的生化参数，并寻求每位患者的纵向影像学发现。在可行的情况下，对患者进行临床检查和检查。检查内容包括骨骼检查，骨密度测定以及骨代谢的血清和尿液标志物的测量。在部分患者中，进行了使用儿科评估和残疾清单（PEDI）的功能评估以及GNPTAB的分子分析。结果：在30年的时间里确定了25例粘液脂血症患者。描述了存活患者的发病率和功能结局。血清钙和磷酸盐正常。除一名患者外，所有患者均具有正常的碱性磷酸酶。血清骨钙素和尿液脱氧吡啶啉/肌酐升高。观察到两种放射学特征：（i）ML II婴儿的暂时性新生儿甲状旁腺功能亢进和（ii）ML中间和ML III的患者进行性骨营养不良。报告了九个受试者中GNPTAB的分子分析。结论：ML的特征是进行性的骨骼和矿物质疾病，我们将其描述为“粘液脂血症的骨营养不良”。这种骨营养不良的临床和影像学特征与“假性甲状旁腺功能亢进症”综合征一致。大部分进行性骨骼和关节病理可归因于这种骨骼疾病。

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