The strategies of early diagnosis and management of primary renal tubular disease in children
10.3760/cma.j.issn.1673-4408.2025.06.001
- VernacularTitle:儿童原发性肾小管疾病的早期预警与管理策略
- Author:
Yulin KANG
1
;
Wenyan HUANG
;
Lei YIN
;
Wei ZHOU
;
Yufeng LI
;
Jia RAO
;
Yuanyuan LIU
;
Yachun LI
;
Song MAO
;
Wenjing SHI
Author Information
1. 上海市儿童医院 上海交通大学医学院附属儿童医院肾脏科 200062
- Keywords:
Children;
Renal tubular disease;
Genetic testing;
Electrolyte disturbance;
Polyuria
- From:
International Journal of Pediatrics
2025;52(6):359-363
- CountryChina
- Language:Chinese
-
Abstract:
Childhood primary renal tubular diseases are chronic kidney diseases characterized by impaired renal tubular reabsorption. Primary renal tubular disease has diverse clinical manifestations and lacks of specificity. Laboratory tests are limited,making it prone to missed diagnosis and misdiagnosis. Based on the current knowledge of renal tubular diseases,authors propose early warning signals of renal tubular diseases such as family history of primary tubular diseases,unexplained polyhydramnios during pregnancy,polydipsia,polyuria,delayed growth and development or rickets,decreased muscle strength and tone,unexplained electrolyte disturbance,hyperuricemia,acid-base disturbance,positive urine sugar test,renal tubular proteinuria,urinary imaging examination suggesting kidney stones,calcium deposition,renal cysts and early onset of eye,ear,joint and neuron injury.Meanwhile,some universal management strategies for primary renal tubular disease are proposed,emphasizing the importance of multidisciplinary collaboration,genetic testing and individualized intervention to improve the long-term prognosis of childhood primary renal tubular diseases.