A Case of Autosomal Dominant Alport Syndrome Diagnosed Just Before Discontinuation of Follow-Up.

Yasuyo Kashiwagi, Hironobu Okuno, Takahito Moriyama, Natsuko Inagaki, Gaku Yamanaka

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Article in Pediatric reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 authors.

Yasuyo KashiwagiDepartment of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, Japan.

Hironobu OkunoDepartment of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, Japan.

Takahito MoriyamaDepartment of Nephrology, Tokyo Medical University, Tokyo 160-0023, Japan.

Natsuko InagakiClinical Genetics Center, Tokyo Medical University Hospital, Tokyo 160-0023, Japan.

Gaku YamanakaDepartment of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, Japan.ORCID 0000-0002-8379-7187

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Persistent microscopic hematuria in children is often considered benign, yet recent evidence shows that a substantial proportion of affected individuals have underlying glomerular disease, particularly collagen IV-related nephropathies. We report a case of autosomal dominant Alport syndrome (ADAS) diagnosed just before discontinuation of long-term follow-up in a young woman initially presumed to have benign familial hematuria. The proband had persistent microscopic hematuria from early childhood, with normal renal function and no extrarenal manifestations. Her mother also had microscopic hematuria without kidney impairment, and the absence of accessible family history reinforced the assumption of benign familial hematuria. At age 42, the mother developed sensorineural hearing loss, and around the same time, the family learned that the maternal grandfather was undergoing dialysis for end-stage renal disease of unknown etiology. These findings prompted genetic testing, which identified a heterozygous pathogenic

Indexed as

Alport syndrome (AS)autosomal dominant AS (ADAS)differential diagnosisgenetic testingmicrohematuria

Identifiers

PMID42347069

DOI10.3390/pediatric18030072

PMCPMC13304920

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