PMC5498205_01
Family tree. The proband is indicated by an arrow. The presence of the hypoparathyroidism, sensorineural deafness, and renal disease triad is indicated by colors in each quartered area.
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His sister and nephew had deafness and renal disease, presenting mild to moderate renal insufficiency and mild proteinuria, and his son and father had deafness (Fig. 1).
Echography of both kidneys. Some renal cysts were observed, but no atrophy or anomalies were present in either kidney.
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On abdominal echography, the size of both kidneys was preserved, and some renal cysts were observed, but urinary tract deformity was not present (Fig. 2).
Kidney biopsy findings. a) Light microscopy findings of periodic acid-methenamine-silver staining (magnificationx400). Glomerular basement membrane duplication (arrowhead) and endocapillary proliferation (small square) were observed. b) Light microscopy findings of periodic acid-Schiff staining (magnificationx100). Segmental mesangial proliferation (small square) and moderate interstitial injury (arrowheads) were observed. c) The findings of the immunofluorescence staining. IgG (-), IgM (+). d) The findings of immunohistochemistry for hepatitis B surface antigen (HBsAg) (magnificationx400), which was negative in the glomeruli. e) The electron microscopy findings of the glomerulus (magnificationx2,500 and x15,000). A magnified view of the outlined region in the lower-magnification picture is shown as a separate picture. Ill-demarcated and low-electron-density deposits were observed within the glomerular basement membrane. Mesangial interposition and foot process effacement were also present.
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On light microscopy, 25% of glomeruli showed global sclerosis, and the major lesion in the rest of the glomeruli was segmental mesangial proliferation with a partial double contour of the glomerular basement membrane, indicating unusual proliferative glomerulonephritis (Fig. 3a and b). Regarding tubulo-interstitial lesions, mild to moderate fibrosis and tubular atrophy were found (Fig. 3b). Immunofluorescence examinations showed neither immunoglobulin nor complement deposition except for faint IgM staining along the glomerular basement membrane (Fig. 3c). On electron microscopy, ill-demarcated and low-electron-density deposits were localized at the subendothelial area and within the glomerular basement membrane (Fig. 3e). Mesangial interposition and foot process effacement were also observed (Fig. 3e). To determine whether or not the hepatitis B virus played a role in the glomerular lesion development, we performed immunostaining for HBsAg and obtained negative staining results (Fig. 3d).