Inherited tubular renal acidosis

被引：3

作者：

Bouzidi, Hassan ^{[1
]}

Hayek, Donia ^{[1
]}

Nasr, Dhekra ^{[1
]}

Daudon, Michel ^{[2
]}

Najjar, Mohamed Fadhel ^{[3
]}

机构：

[1] CHU Tahar Sfar, Biochim Lab, Mahdia, Tunisia

[2] Grp Hosp Necker Enfants Malades, Lab Biochim A, Paris, France

[3] CHU Fattouma Bourguiba, Lab Biochim Toxicol, Monastir, Tunisia

来源：

ANNALES DE BIOLOGIE CLINIQUE | 2011年 / 69卷 / 04期

关键词：

alkali replacement; anion gap; metabolic acidosis; nephrocalcinosis; nephrolithiasis; renal tubular acidosis; PATHOGENESIS; SUBUNIT; OSTEOPETROSIS; LOCALIZATION; DEFICIENCY; MUTATIONS; INSIGHTS;

D O I：

10.1684/abc.2011.0590

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Renal tubular acidosis (RTA) is a tubulopathy characterized by metabolic acidosis with normal anion gap secondary to abnormalities of renal acidification. RTA can be classified into four main subtypes: distal RTA, proximal RTA, combined proximal and distal RTA, and hyperkalemic RTA. Distal RTA (type 1) is caused by the defect of H+ secretion in the distal tubules and is characterized by the inability to acidify the urine below pH 5.5 during systemic acidemia. Proximal RTA (type 2) is caused by an impairment of bicarbonate reabsorption in the proximal tubules and characterized by a decreased renal bicarbonate threshold. Combined proximal and distal RTA (type 3) secondary to a reduction in tubular reclamation of bicarbonate and an inability to acidify the urine in the face of severe acidemia. Hyperkalemic RTA (type 4) may occur as a result of aldosterone deficiency or tubular insensitivity to aldosterone. Clinicians should be alert to the presence of RTA in patients with an unexplained normal anion gap acidosis, hypokalemia, recurrent nephrolithiasis and nephrocalcinosis. The mainstay of treatment of RTA remains alkali replacement.

引用

页码：405 / 410

页数：6