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Table 3 Clinical information and renal pathology of BOR cases reported in the literature

From: Misdiagnosed Branchio-Oto-Renal syndrome presenting as proteinuria and renal insufficiency with insidious signs since early childhood: a report of three cases

Year [Ref]

Age-Sex

Familial / Sporadic

Renal involvement

Imaging

Main characteristics of renal biopsy pathology

1979 [11]

24-F

Familial

-

RH (R)

Chronic interstitial nephritis.

1982 [12]

25-M

Familial

ESKD

-

Segmental and glomerular sclerosis; mesangial proliferation; mesangial and subendothelial deposits; Atrophied tubules, interstitial fibrosis, and lymphocytes infiltrate.

1982 [12]

33-M

Familial

0.5 g/d of proteinuria; Normal eGFR

RH (R)

Segmental hyalinization; increased mesangial matrix; nodular mesangial deposits; granular deposits of IgM.

1982 [12]

5-M

Familial

Slight proteinuria; Cin of 69 mL/min/1.73m2

RH (R + L)

Only 3 glomeruli; segmental and focal hyalinosis with deposits; discrete cellular hyperplasia; subendothelial and focal subepithelial deposits; foamy histiocytes; normal tubules and vessels; Granular deposits of IgM+++, IgA++, C3+, and C4+.

1988 [13]

8-F

Familial

No proteinuria; Normal eGFR

RH (R)

Focal mesangial sclerosis; mesangial proliferation; thickening of the glomerular basement membranes; No deposits of immunoglobulins or complement.

2013 [7]

27-M

Sporadic

2.5 g/d of proteinuria; Normal eGFR

RH (L)

Segmental sclerosis; deposits of IgM and C3.

2015 [14]

35-M

Familial

-

RH (R + L)

Glomerular sclerosis.

2021 [15]

32-M

Sporadic

Normal eGFR

RH (R)

Larger glomerulus (295.4 μm); Focal mesangial proliferation; arteriolosclerosis; focal effacement of the foot process; focal weak granular deposits of IgA and IgM.

  1. Dashes represent data non-available. F, female; M, male; ESKD, end-stage renal disease; Cin, Inulin clearance; RH, renal hypoplasia; RD, renal dysplasia; R, right; L, left