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Article

Combined Alport syndrome and Klinefelter syndrome.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Feb 2016

Nishida Masashi, Hashimoto Fusako, Kaito Hiroshi, Nozu Kandai, Iijima Kazumoto, Asada Dai, Hamaoka Kenji

Abstract excerpt

To date, there have been a very limited number of case reports on combined Alport syndrome (AS) and Klinefelter syndrome (KS). We herein describe the case of a 9-month-old boy diagnosed with concomitant AS and KS. KS was detected on chromosomal analysis of the amniotic fluid, and hematuria/proteinuria was identified in urinary screening at 6 months of age. Renal biopsy indicated AS, with complete deficit of the...

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PMID: 26554353
DOI: 10.1111/ped.12743

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