Nance W E, Sweeney A
Birth Defects Orig Artic Ser. 1971 Mar;07(4):70-2.
A four-year-old Caucasian male with well-documented renal tubular acidosis, first noted in early infancy, was found to have profound hearing loss causing delayed speech development. The parents were first cousins, and three male half-sibs, each by a different father, were not affected. The findings suggest that the syndrome of renal tubular acidosis with deafness is a distinct nosologic entity that is determined by an autosomal recessive gene.
一名4岁的白种男性，自婴儿早期起就有肾小管酸中毒的确切记录，现发现有严重听力损失，导致语言发育迟缓。父母是近亲，三个同父异母的兄弟，父亲各不相同，均未受影响。这些发现表明，伴有耳聋的肾小管酸中毒综合征是一种由常染色体隐性基因决定的独特疾病实体。
