哈丁普病的自然病史。
Natural history of Hartnup disease.
作者信息
Wilcken B, Yu J S, Brown D A
出版信息
Arch Dis Child. 1977 Jan;52(1):38-40. doi: 10.1136/adc.52.1.38.
Abstract
Hartnup disease was diagnosed in 12 children and 3 of their 15 sibs in the course of routine urine screening of 6-week-old infants in New South Wales. These children were followed for up to 8 years, during which time there were only two clinical episodes which might be ascribed to Hartnup disease. The mental development of all the children was normal. 10 had height centiles less than the midparent height centiles, while 4 had centiles equal to or above the midparent centiles. The study shows that in children with Hartnup disease in Australia symptoms are very uncommon. Mental development is normal, and heights are possibly slightly below that expected. Hartnup disease has an incidence of approximately 1 in 33 000 in New South Wales.
摘要
在新南威尔士州对6周龄婴儿进行的常规尿液筛查过程中，12名儿童及其15名同胞中的3人被诊断出患有哈丁普病。这些儿童被随访了长达8年，在此期间仅有两次临床发作可能归因于哈丁普病。所有儿童的智力发育均正常。10名儿童的身高百分位数低于父母平均身高百分位数，而4名儿童的身高百分位数等于或高于父母平均身高百分位数。该研究表明，在澳大利亚患有哈丁普病的儿童中，症状非常罕见。智力发育正常，身高可能略低于预期。在新南威尔士州，哈丁普病的发病率约为33000分之一。
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