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一名女婴及其家族中的假性醛固酮减少症:临床表现的多样性及遗传方式

Pseudohypoaldosteronism in a female infant and her family: diversity of clinical expression and mode of inheritance.

作者信息

Chitayat D, Spirer Z, Ayalon D, Golander A

出版信息

Acta Paediatr Scand. 1985 Jul;74(4):619-22. doi: 10.1111/j.1651-2227.1985.tb11046.x.

Abstract

Pseudohypoaldosteronism was diagnosed in an infant that clinically presented severe failure to thrive and vomiting. Evaluation of her extended family revealed many other affected family members with a vast range of clinical expression. The mode of inheritance is most likely autosomal dominant. Salt supplementation during infancy was effective in restoring normal growth, weight gain and serum electrolytes.

摘要

一名临床上表现为严重生长发育迟缓及呕吐的婴儿被诊断为假性醛固酮减少症。对其大家庭的评估发现许多其他受影响的家庭成员,临床表现范围广泛。遗传模式很可能是常染色体显性遗传。婴儿期补充盐分对恢复正常生长、体重增加及血清电解质有效。

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