Winsnes A, Monn E, Stokke O, Feyling T
Acta Paediatr Scand. 1979 Nov;68(6):861-8. doi: 10.1111/j.1651-2227.1979.tb08224.x.
Two brothers showed severe and persistent hyperchloraemic metabolic acidosis (capillary blood pH 7.07--7.15) due to a low renal bicarbonate threshold at 11 mmol/l. The maximal tubular capacity for bicarbonate reabsorption was reduced to about half the normal. A high dose of acetazolamide (25 mg/kg) lowered the tubular bicarbonate reabsorption substantially, indicating the presence of carbonic anhydrase. Both the glomerular filtration rate, the renal blood flow and the renal concentrating capacity were slightly reduced. The clinical characteristics were: growth retardation, mental retardation, nystagmus, corneal opacities, cataract, glaucoma and enamel defects of the permanent teeth. Serum thyroxine was pathological low without clinical signs of hypothyreosis. The erythrocytes showed an increased osmotic resistance. Autopsy of the younger brother, who died 4 1/2 years old, revealed thyroid and thymus weights of 25% of the normal. The kidney tubular cells were swollen with vacuoles. The glomeruli had a normal appearance.
两兄弟因肾碳酸氢盐阈值低至11 mmol/l而出现严重且持续性的高氯性代谢性酸中毒（毛细血管血pH值7.07 - 7.15）。肾小管对碳酸氢盐重吸收的最大能力降至正常水平的约一半。高剂量乙酰唑胺（25 mg/kg）显著降低了肾小管对碳酸氢盐的重吸收，表明存在碳酸酐酶。肾小球滤过率、肾血流量和肾浓缩能力均略有降低。临床特征为：生长发育迟缓、智力发育迟缓、眼球震颤、角膜混浊、白内障、青光眼和恒牙釉质缺损。血清甲状腺素病理性降低，但无甲状腺功能减退的临床体征。红细胞的渗透抵抗力增加。4岁半死亡的弟弟尸检显示，甲状腺和胸腺重量为正常的25%。肾小管细胞肿胀并有空泡。肾小球外观正常。
