肾钙质沉着症
远端肾小管酸中毒
肾小管酸中毒
代谢性酸中毒
医学
酸中毒
高氯血症
内科学
内分泌学
多尿
乳酸性酸中毒
肾
糖尿病
作者
Agnieszka Turczyn,Piotr Skrzypczyk,Małgorzata Mizerska-Wasiak,Michał Brzewski,Małgorzata Pańczyk-Tomaszewska
出处
期刊:PubMed
日期:2019-03-28
卷期号:46 (273): 146-148
摘要
Distal renal tubular acidosis is a defect of acidification of urine in distal tubule. Full-blown form is characterized by polyuria, growth deficiency, nephrolithiasis or nephrocalcinosis. Mutations in genes encoding Cl-/HCO3 - exchanger (autosomal dominant) or H+-ATPase (autosomal recessive) are the most frequent in children.In a boy aged 2,5 years, healthy, with proper development, metabolic acidosis with hyperchloremia, hypokalaemia, normal glomerular filtration rate and alkaline urine was discovered during hospitalization because of pneumonia. USG showed normal length kidney with nephrocalcinosis type IIB. The family history revealed nephrocalcinosis on the part of the boy's father. He also had metabolic acidosis in blood gas test. Genetic test in a boy and his father showed mutation of SLC4A1(17q21-q22) gene encoding Cl-/HCO3 - exchanger. The boy was treated with 8,4% NaHCO3 - orally (1mEq/kg/24h) and KCl (0,3 mEq/kg/24h). We obtained normalization of blood gas test and potassium concentration.Every child, with accidentally discovered metabolic acidosis, even with normal development, should be diagnosed in case of renal tubular acidosis. Electrolytes, gas blood test, urinalysis and USG are needed in the closest family members of child with diagnosed renal tubular acidosis.
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