IMPACT OF AGE-3 URINE SCREENING AS AN ENTRY POINT FOR EARLY DETECTION OF CAKUT AND HEREDITARY KIDNEY DISEASES

 

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https://storage.unitedwebnetwork.com/files/1099/f518100500c077b7808fc4ec898cbe94.pdf
IMPACT OF AGE-3 URINE SCREENING AS AN ENTRY POINT FOR EARLY DETECTION OF CAKUT AND HEREDITARY KIDNEY DISEASES

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Satoru
Oya
Satoru Oya satoru-o@koto.kpu-m.ac.jp Hyogo Prefectural Kobe Children's Hospital Department of Nephrology Kobe Japan *
Hiroshi Kaito hskaitou_kch@hp.pref.hyogo.jp Hyogo Prefectural Kobe Children's Hospital Department of Nephrology Kobe Japan -
Yu Tanaka tanaka46@med.kobe-u.ac.jp Hyogo Prefectural Kobe Children's Hospital Department of Nephrology Kobe Japan -
Ayu Ogura ayusaki1023@gmail.com Hyogo Prefectural Kobe Children's Hospital Department of Nephrology Kobe Japan -
Shigeki Ikeda kynjumiran@gmail.com Hyogo Prefectural Kobe Children's Hospital Department of Nephrology Kobe Japan -
Kanaki Kin knkin_kch@hp.pref.hyogo.jp Hyogo Prefectural Kobe Children's Hospital Department of Nephrology Kobe Japan -
Ryojiro Tanaka tabaka_kch@hp.pref.hyogo.jp Hyogo Prefectural Kobe Children's Hospital Department of Nephrology Kobe Japan -
Kazumoto Iijima kdiijima_kch@hp.pref.hyogo.jp Hyogo Prefectural Kobe Children's Hospital Department of Nephrology Kobe Japan -
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Congenital anomalies of the kidney and urinary tract (CAKUT) and hereditary nephritis, including Alport syndrome, often progress silently until irreversible kidney damage occurs. Early detection and timely intervention for the above conditions are proven to improve long-term kidney outcomes. In Japan, universal urine screening at age 3 years during routine health checkups aims to identify early kidney and urinary abnormalities. However, previous studies are limited regarding the impact of age-3 urine screening program as an early detection of CAKUT and hereditary kidney diseases. This study evaluated referred patients at the regional tertiary hospital, to determine the impact upon the early detection of CAKUT and hereditary nephritis in age-3 urine screening program.

We retrospectively reviewed children who first visited Hyogo Prefectural Kobe Children’s Hospital between July 2016 and September 2025 after abnormal age-3 urine screening. Diagnostic evaluation by specialists of pediatric nephrology included laboratory testing, kidney ultrasound, and kidney biopsy or genetic analysis when indicated. Data on screening findings, family history, diagnoses, and follow-up examinations were analyzed.

Three hundred and forty-four individuals were referred after screening abnormalities. Screening findings included isolated hematuria (58.1 %), isolated proteinuria (24.7 %), and combined both (16.0 %). At the initial assessment, a total of 173 children (50.3 %) were evaluated by pediatric nephrologists as requiring continued follow-up. Within the cohort of 173 individuals, 64 subsequently resolved spontaneously, whilst 24 (13.9 %) reached conclusive diagnoses by the last visit, as indicated below; CAKUT (n=9), glomerular diseases (n=8), tubular diseases (n=5), kidney involvement with vasculitis (n=1), and renovascular hypertension (n=1). Among the other 65 individuals under provisional diagnoses, either isolated hematuria or combined abnormalities with hematuria and proteinuria was persistently exhibited in 63, and 37.1 % of them had a family history of asymptomatic hematuria or chronic kidney diseases. Further detailed investigation of the family history revealed that five individuals had close relatives diagnosed with Alport syndrome or thin basement membrane disease confirmed with kidney biopsy or genetic analyses. One of the individuals was finally confirmed to have Alport syndrome with genetic analysis.

At the final visit, all individuals who remained under follow-up had CKD stage 1 (n = 87) or stage 2 (n = 2), and none of the CAKUT cases showed any decline in kidney function.

A considerable proportion of children referred after abnormal age-3 urine screening were diagnosed with CAKUT or exhibit urine abnormalities highly suggestive of hereditary nephritis, warranting long-term specialist follow-up. This study highlights that the age-3 urine screening program in Japan, serves as an essential gateway for the early diagnosis and longitudinal management of pediatric kidney diseases.

Kewords