Nail-patella症候群に伴う家族性腎炎の1家系

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タイトル別名
  • Renal Disease in the Nail-Patella Syndrome: Report of an Affected Family and Studies of Renal Disease Susceptibility and HLA
  • Nail patella ショウコウグン ニ トモナウ カゾクセイ ジンエン

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The proband, a 29-year-old Japanese man, was presented with end-stage of renal failure, hypolasia of patellae, iliac horn, extension defect in the elbows and triangular nails of the fingers. His nephropathy developed at the age of seven, and the clinical course was resembling that of chronic glomerulonephritis. In laboratory findings, there were few characteristics of the renal failure of the nail-patella syndrome. Light microscopic examinations of the renal biopsy specimen showed pathology compatible with the end-stage glomerulonephritis due to extracapillary proliferation in the most parts. In addition to these histological findings, there was an unusual mass larger than glomerulus, consisting of clear cells, which was estimated to be grouping of foam cells, probably originated from endotherial or muscular cells of interlobular artery of the kidney. Immunofluorescence microscopy showed intense positive staining of small arterial walls for C1q, C3 and C9, but negative for immunoglobulins, albumin and fibrinogen ; while staining of glomeruli was faint and not specific. Electronmicroscopic examinations showed collagen-like-fibrils in markedly proliferated mesangial matrix, that was compatible with the substance characteristically seen in the nail-patella syndrome. The patient is now under maintenance hemodialysis without problems for 10 months after the initiation. Five of his related members in the three generations had, or have been affected by the nailpatella syndrome, which was closely linked with transmission of a Mendelian trait of ABO blood group. Nephropathy was disclosed in four of the five related members with skeletal dysplasia; the three were in uremic, the one, a 32-year-old man, was remaining in asymptomatic proteinuria and the other, a 6-year-old girl, was negative for proteinuria. To investigate if there was any additional factor (s) other than gene associated with ABO blood group to modify the occurrence or course of the nephropathy in the related members, association of major histocompatibility complex (HLA) and renal disease susceptibility was studied. However, the studies failed to reveal significant association between nephropathy susceptibility and HLA typing as far as A-locus as well as B-locus determinations.

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