Brown M T, Cunningham M J, Ingelfinger J R, Becker A N
Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston 02114.
Arch Otolaryngol Head Neck Surg. 1993 Apr;119(4):458-60. doi: 10.1001/archotol.1993.01880160106017.
The autosomal recessive inherited syndrome of distal renal tubular acidosis and sensorineural hearing loss may present in one of two distinct fashions. The rare adolescent form is characterized by mild renal tubular acidosis, mild to moderate sensorineural hearing loss, and otherwise normal growth and development. The more common infantile type typically presents in the first year of life with failure to thrive, acidosis, and a more severe sensorineural hearing loss. In this report, progression of sensorineural hearing loss is documented for the first time in two siblings with the infantile variant. This association suggests that all children with distal renal tubular acidosis should undergo sequential audiologic evaluations with the institution of appropriate amplification and educational intervention as needed.
常染色体隐性遗传的远端肾小管酸中毒和感音神经性听力损失综合征可能以两种不同的方式出现。罕见的青少年型表现为轻度肾小管酸中毒、轻度至中度感音神经性听力损失，以及其他方面正常的生长发育。较常见的婴儿型通常在出生后第一年出现生长发育迟缓、酸中毒和更严重的感音神经性听力损失。在本报告中，首次记录了两名患有婴儿型变异的兄弟姐妹感音神经性听力损失的进展情况。这种关联表明，所有患有远端肾小管酸中毒的儿童都应接受序贯听力评估，并根据需要进行适当的听力放大和教育干预。
