PERSISTENT ISOLATED PROXIMAL RENAL TUBULAR-ACIDOSIS - A SYSTEMIC-DISEASE WITH A DISTINCT CLINICAL ENTITY

被引：22

作者：

IGARASHI, T

ISHII, T

WATANABE, K

HAYAKAWA, H

HORIO, K

SONE, Y

OHGA, K

机构：

[1] Department of Paediatrics, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, 112, Mejirodai Campus

[2] Department of Paediatrics, Ohta-nishinouchi Hospital, Fukushima, Kohriyama

来源：

PEDIATRIC NEPHROLOGY | 1994年 / 8卷 / 01期

关键词：

PERSISTENT PROXIMAL RENAL TUBULAR ACIDOSIS; CEREBRAL CALCIFICATION; BAND KERATOPATHY; CATARACTS; GLAUCOMA;

D O I：

10.1007/BF00868266

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We describe a 16-year-old female with persistent isolated proximal renal tubular acidosis, cerebral calcification, mental retardation, band keratopathy, cataracts, glaucoma and short stature. Severe metabolic acidosis and hypokalaemia were linked to an abnormally low renal threshold for bicarbonate reabsorption (8 mmol/l). Maximal rates of urinary excretion of titratable acid and ammonium were normal; erythrocyte carbonic anhydrase II was normal. This rare case represents a systemic disease with a distinct clinical entity which may be transmitted by autosomal recessive inheritance.

引用

页码：70 / 71

页数：2

共 10 条

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