Mortality in Patients with Congenital 21-Hydroxylase Deficiency Diagnosed after the Introduction of a Newborn Screening Program in Japan
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概要
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In order to estimate the mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) diagnosed after the introduction of a newborn screening program in Japan, a questionnaire was sent to all members of the Japanese Society for Pediatric Endocrinology. Three hundred and eighty two out of 960 questionnaires were available for the analysis. Twelve deaths were reported. Two died in an early neonatal period, and 10 patients were on maintenance therapy. This suggests that mortality is estimated to be one in 25-80 21OHD patients on maintenance therapy in childhood. It was speculated that cortisol deficiency somewhat contributed to their deaths. Of note, 4 died during a gastrointestinal infection. The need to increase hydrocortisone doses, and the importance of parenteral hydrocortisone administration during stress or illnesses should be repeatedly informed to carers and their physicians.
- 日本小児内分泌学会の論文
日本小児内分泌学会 | 論文
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