Journal of Developmental Medicine(Electronic Version)  2026, Vol. 14 Issue (4): 295-300 DOI: 10.3969/j.issn.2095-5340.2026.04.004 |
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Study on the onset characteristics and pathogenic gene mutations of congenital anomalies of the kidney and urinary tract in children
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| Yan Jingxue, Li Junqin, Lyu Hongyan, et al.
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Department of Nephrology and Rheumatology, Kunming Children's Hospital, Kunming, Yunnan 650228, China
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Abstract
Objective To analyze the onset characteristics and gene mutation situation of congenital anomalies of kidney and urinary tract (CAKUT) in children, and to provide reference for the diagnosis and treatment of CAKUT. Methods A retrospective study design was adopted. A total of 128 children with CAKUT who were admitted to Kunming Children's Hospital from January 2021 to December 2023 were enrolled as study subjects. General data of the children with CAKUT were collected, and the onset characteristics and gene mutation situation of CAKUT in these children were analyzed. Statistical analysis was performed using χ 2 test. Results Among the 128 children with CAKUT, age ranged from 0 to 13 years. There were 88 males and 40 females, with a male-to-female ratio of 2.2∶1. 77 children (60.16%) were aged 0-<1 year, 31 children (24.22%) aged ≥1-<7 years, and 20 children (15.62%) older than 7 years, with the highest proportion in infants aged 0-1 year. Significant differences in gender distribution were observed
across age groups (all P<0.05). At initial presentation, 53.13% of children had proteinuria, 40.63% had
abnormal urination, 25.00% presented with fever, 14.06% had hypertension, and 12.50% had edema of the eyelids or lower extremities. Abnormalities were detected on prenatal ultrasound in 27.34% of children.
The top three postnatal diagnoses were hydronephrosis (51.43%), bladder/urethral abnormalities (28.57%), and renal dysplasia (20.00%). All 128 CAKUT children underwent urinary system ultrasonography and laboratory examinations. No obvious abnormalities were found in routine blood tests, blood biochemistry, or liver function detection. Urine protein test was positive in 76 children, and abnormal findings on urinary ultrasonography were detected in 119 children, who subsequently received further imaging examinations. Among 128 CAKUT children, hydronephrosis was the most common phenotype (35.16%), followed by bladder/urethral abnormalities (16.41%), renal dysplasia (11.72%), and renal cysts (9.38%). Pathogenic gene mutations were identified in 23 of 128 CAKUT children, involving a total of 11 mutated genes. PAX2 mutations were the most frequent, detected in 8 children (34.78%), followed by HNF1B mutations (3 cases, 13.04%). Conclusion CAKUT in children is more common in infants aged 0-1 year, especially in male infants, proteinuria and abnormal urination are the primary clinical manifestations at the initial visit. Hydronephrosis, bladder/urethral abnormalities, and renal dysplasia account for a relatively high proportion. PAX2 and HNF1B are the most frequently mutated genes.
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Received: 09 April 2025
Published: 30 July 2026
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