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Combined Alport syndrome and Klinefelter syndrome
Author(s) -
Nishida Masashi,
Hashimoto Fusako,
Kaito Hiroshi,
Nozu Kandai,
Iijima Kazumoto,
Asada Dai,
Hamaoka Kenji
Publication year - 2016
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12743
Subject(s) - medicine , alport syndrome , proteinuria , glomerular basement membrane , klinefelter syndrome , renal biopsy , type iv collagen , urinary system , concomitant , microscopic hematuria , urine , x chromosome , prenatal diagnosis , endocrinology , biopsy , pathology , glomerulonephritis , genetics , gene , kidney , pregnancy , fetus , laminin , biology , cell
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 α5 chain of type IV collagen in the glomerular basement membranes. On genetic analysis for AS, de novo homozygote mutation (c.3605‐2a > c) was seen in the gene encoding α5 chain of type IV collagen (COL4A5) on the X chromosomes of maternal origin. This is the first case report of combined AS and KS diagnosed during infancy, and it indicates the need to consider the concurrent existence of these two disorders in infants with urine abnormalities, even in the absence of a family history.