Clinical characteristics of XLA patients presenting with nephritis
| Patient . | Age at the diagnosis of XLA (years) . | Age at the diagnosis of kidney disease (years) . | BTK variant . | Proteinuria (g/gCre) . | Hematuria . | Serum creatinine (mg/dl) . | LM . | IF . | Histological diagnosis . | Treatment . | Prognosis . | References . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 50 | 47 | c.1908 + 1G>A | 0.55 | 3+ | 1.0 | Mesangial proliferation | IgA (+) | IgAN | ACE-I | Improvement of proteinuria | (83) |
| 2 | 1 | 8 | c.1379T>G, p.Leu460Trp | 0.5 | 3+ | 0.34 | Mesangial proliferation/endocapillary proliferation | IgA (+), C3 (+), Fib (+) | IgAN | PSL | Improvement of proteinuria | (83) |
| 3 | 0.3 | 10 | c.787del, p.Tyr263Thrfs*14 | ± | 2+ | 0.4 | Mesangial proliferation/duplication of the basement membrane | IgG (+), C3 (+) | MPGN | MPT + PSL | Improvement of proteinuria | (83) |
| 4 | 0.2 | 3 | c.612insA | 0.86 | 3+ | 0.2 | Mesangial proliferation/duplication of the basement membrane | IgG (+), C3 (+) | MPGN | MPT + PSL | Improvement of proteinuria | (83) |
| 5 | 0.9 | 23 | Exon 6–18 duplication | 0.15 | 3–10/HPF | 1.1 | Deposition of immune complex in the basement membrane | IgG (+) | MN | None | Spontaneous remission | (83) |
| 6 | 5 | 6 | c.347C>T, p.Pro116Leu | 0.34 | 3+ | 0.4 | Cellular proliferation in mesangial/endocapillary electronic dense deposits | IgG (+), IgA (+), C3 (+), C4 (+), IgM (+), C1q (+) | Immune complex glomerulonephritis | PSL + MMF | Improvement of proteinuria | (83) |
| 7 | 0.6 | 10 | p.Arg288Gln | 0.63 | >50/HPF | 0.3 | Mesangial proliferation/duplication of the basement membrane | IgG (3+), C3 (2+), C4 (+), C1q (2+) | MPGN | ACE-I/change of IVIG preparation | Improvement of proteinuria | (83) |
| 8 | 11 | 11 | p.Tyr40Cys | +++ | 4/HPF | 1.29 | Mesangial proliferation/fibrocellular crescent formation | C3 (+++) | Mesangial proliferative nephritis | Antibiotics and IVIG for respiratory infection | Improvement of proteinuria | (88) |
| 9 | 11 | 12 | p.Tyr40Cys | ++ | 30/HPF | Normal range | Mesangial proliferation/duplication of the basement membrane | C 3(+), IgG (+) | MPGN | Antibiotics and IVIG for respiratory infection | Improvement of proteinuria | (88) |
| 10 | 6 | 6 | c.240G > A | + | 970/HPF | 0.42 | Mesangial proliferation | IgA (+++), C3 (++), IgM (+) | IgAN | MPT + PSL + MMF | Improvement of proteinuria | (89) |
| 11 | 7 | 12 | c.1361delA | 3 | 150/HPF | 0.78 | Mesangial proliferation/duplication of the basement membrane | C3 (+), IgG (+) | MPGN | MPT + PSL | Improvement of proteinuria | (90) |
| 12 | 0.25 | 20 | p.Gln412* | 0.14 | 14-/HPF | 1.5 | Tubulointerstitial cell infiltrate/crescent formation | IgG (+) | TIN | Change of IVIG preparation /MPT/PSL | Improvement of proteinuria/CKD stage 3 | (83) |
| 13 | 0.5 | 11 | Exon 6–7 duplication | 0.26 | 3+ | N/A | Tubulointerstitial cell infiltrate/crescent formation | IgG (+), C3 (+) | TIN | Change of IVIG preparation /MPT | ESRD | (83) |
| Patient . | Age at the diagnosis of XLA (years) . | Age at the diagnosis of kidney disease (years) . | BTK variant . | Proteinuria (g/gCre) . | Hematuria . | Serum creatinine (mg/dl) . | LM . | IF . | Histological diagnosis . | Treatment . | Prognosis . | References . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 50 | 47 | c.1908 + 1G>A | 0.55 | 3+ | 1.0 | Mesangial proliferation | IgA (+) | IgAN | ACE-I | Improvement of proteinuria | (83) |
| 2 | 1 | 8 | c.1379T>G, p.Leu460Trp | 0.5 | 3+ | 0.34 | Mesangial proliferation/endocapillary proliferation | IgA (+), C3 (+), Fib (+) | IgAN | PSL | Improvement of proteinuria | (83) |
| 3 | 0.3 | 10 | c.787del, p.Tyr263Thrfs*14 | ± | 2+ | 0.4 | Mesangial proliferation/duplication of the basement membrane | IgG (+), C3 (+) | MPGN | MPT + PSL | Improvement of proteinuria | (83) |
| 4 | 0.2 | 3 | c.612insA | 0.86 | 3+ | 0.2 | Mesangial proliferation/duplication of the basement membrane | IgG (+), C3 (+) | MPGN | MPT + PSL | Improvement of proteinuria | (83) |
| 5 | 0.9 | 23 | Exon 6–18 duplication | 0.15 | 3–10/HPF | 1.1 | Deposition of immune complex in the basement membrane | IgG (+) | MN | None | Spontaneous remission | (83) |
| 6 | 5 | 6 | c.347C>T, p.Pro116Leu | 0.34 | 3+ | 0.4 | Cellular proliferation in mesangial/endocapillary electronic dense deposits | IgG (+), IgA (+), C3 (+), C4 (+), IgM (+), C1q (+) | Immune complex glomerulonephritis | PSL + MMF | Improvement of proteinuria | (83) |
| 7 | 0.6 | 10 | p.Arg288Gln | 0.63 | >50/HPF | 0.3 | Mesangial proliferation/duplication of the basement membrane | IgG (3+), C3 (2+), C4 (+), C1q (2+) | MPGN | ACE-I/change of IVIG preparation | Improvement of proteinuria | (83) |
| 8 | 11 | 11 | p.Tyr40Cys | +++ | 4/HPF | 1.29 | Mesangial proliferation/fibrocellular crescent formation | C3 (+++) | Mesangial proliferative nephritis | Antibiotics and IVIG for respiratory infection | Improvement of proteinuria | (88) |
| 9 | 11 | 12 | p.Tyr40Cys | ++ | 30/HPF | Normal range | Mesangial proliferation/duplication of the basement membrane | C 3(+), IgG (+) | MPGN | Antibiotics and IVIG for respiratory infection | Improvement of proteinuria | (88) |
| 10 | 6 | 6 | c.240G > A | + | 970/HPF | 0.42 | Mesangial proliferation | IgA (+++), C3 (++), IgM (+) | IgAN | MPT + PSL + MMF | Improvement of proteinuria | (89) |
| 11 | 7 | 12 | c.1361delA | 3 | 150/HPF | 0.78 | Mesangial proliferation/duplication of the basement membrane | C3 (+), IgG (+) | MPGN | MPT + PSL | Improvement of proteinuria | (90) |
| 12 | 0.25 | 20 | p.Gln412* | 0.14 | 14-/HPF | 1.5 | Tubulointerstitial cell infiltrate/crescent formation | IgG (+) | TIN | Change of IVIG preparation /MPT/PSL | Improvement of proteinuria/CKD stage 3 | (83) |
| 13 | 0.5 | 11 | Exon 6–7 duplication | 0.26 | 3+ | N/A | Tubulointerstitial cell infiltrate/crescent formation | IgG (+), C3 (+) | TIN | Change of IVIG preparation /MPT | ESRD | (83) |
XLA, X-linked agammaglobulinemia; BTK, Bruton tyrosine kinase; LM, light microscopy; IF, immunofluorescence; HPF, high-power field; N/A, not accessed; Fib, fibrinogen; IgAN, IgA nephritis; MPGN, membranoproliferative glomerulonephritis; MN, membranous nephropathy; TIN, tubulointerstitial nephritis; ACE-I, angiotensin converting enzyme inhibitor; MPT, methylprednisolone pulse therapy; PSL, prednisolone; MMF, mycophenolate mofetil; IVIG, intravenous immunoglobulin; CKD, chronic kidney disease; ESRD, end-stage renal disease.