Clinical presentation and outcome of the R139W-aHUS patients
| Patient . | 1 . | 2 . | 3 . | 4 . | 5 . | 6 . | 7 . | 8 . | 9 . | 10 . | 11 . | 12 . | 13 . | 14 . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Year of first episode | 1981 | 2006 | 1992 | 1971 | 1989 | 1988 | 2003 | 2003 | 2005 | 2008 | 2010 | 2009 | 2008 | 2005 |
| Sex | M | F | F | M | F | F | F | M | F | F | F | F | F | F |
| Age at onset, y | 0.6 | 0.8 | 1.2 | 2 | 15.5 | 18.4 | 21.9 | 21.9 | 23.5 | 30.8 | 34 | 35 | 51 | 72.5 |
| Initial diagnosis | HUS | HUS | HUS | nd | HUS | HUS | HUS | HUS | HUS | HUS | HUS | HUS | HUS | NA |
| (Trigger suspected) | (None) | (Infection) | (Infection) | (None) | (Infection) | (OC?) | (PP) | (Cocaine?) | (PP) | (OC?) | (OC?) | (PP) | (None) | (None) |
| First symptoms | ||||||||||||||
| Diarrhea (bloody) | +(−) | − | na | na | +(−) | − | + (−) | +(−) | − | +(−) | na | − | na | − |
| Oligoanuria/AHT | −/+ | +/+ | na | na | −/+ | +/+ | −/+ | +/+ | +/+ | −/− | na | +/+ | na | −/+ |
| Laboratory presentation | ||||||||||||||
| Creatinine, μmol/L | 124 | 108 | na | na | 398 | 885 | 566 | 974 | 1451 | 487 | na | 889 | na | 204 |
| Hemoglobin, g/dL | 4.5 | 6.7 | na | na | 7.3 | 6.3 | 5.8 | 9.1 | 6.7 | 6.2 | na | 6.7 | na | 10 |
| Haptoglobin, g/L | nd | < 0.1 | na | na | < 0.1 | < 0.1 | < 0.1 | < 0.1 | < 0.1 | < 0.1 | na | < 0.1 | na | < 0.1 |
| Schizocytes, % | 6 | 5 | na | na | < 1 | 3-5 | 10 | 3-5 | 3-5 | 3-5 | na | 3-5 | na | nd |
| Platelets counts, ×109/L | 142 | 16 | na | na | 113 | 60 | 79 | 86 | 112 | 67 | na | 226 | na | 280 |
| Nephrotic syndrome | + | + | na | na | + | − | + | + | + | + | na | + | na | − |
| First flare treatment | ||||||||||||||
| Acute hemodialysis | − | + | na | − | − | + | + | + | + | + | na | + | na | − |
| Plasmatherapy | + | + | − | − | + | + | + | + | − | + | + | + | + | − |
| (Details) | 4ET/7 d | 10PE/10 d | 8PE/11 d | 10PE/26 d | 16PE/22 d | 7PE/10 d | 13PE/20 d | na | 6PE/7 d | na | ||||
| Clinical course | ||||||||||||||
| Extrarenal event | Cardiac | Cardiac neurologic | None | None | Neurologic | Cardiac neurologic | Cardiac neurologic | Neurologic | Cardiac | na | Cardiac | Cardiac | Cardiac | |
| Relapse (numnber) | 0 | 1 | 4 | 6 | 1 | 2 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | |
| Renal outcome | ESRD | ESRD | CKD | ESRD | CKD | ESRD | ESRD | ESRD | ESRD | CKD | CKD | CKD | ESRD | ESRD |
| (Delay 1st HUS-ESRD or follow-up of CKD) | (11 y) | (7 mo) | (19 y) | (37 y) | (21 y) | (5 mo) | (4 mo) | (1 mo) | (1mo) | (2 y) | (6 mo) | (2 y) | (12 mo), diseased | (18 mo) |
| Renal transplantation | 3 | 0* | 0 | 0* | 0* | 2* | 0 | 1 | 0* | 0 | 0 | 0 | 0 | 1 |
| Failure (HUS) | 3 (1) | 2 (2) | 1 (1) | |||||||||||
| Others mutations | FHR341H | FH F960S | ||||||||||||
| Homozygous at-risk haplotypes | FH | FH+MCP | MCP | MCP | FH | MCP | H+MCP |
| Patient . | 1 . | 2 . | 3 . | 4 . | 5 . | 6 . | 7 . | 8 . | 9 . | 10 . | 11 . | 12 . | 13 . | 14 . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Year of first episode | 1981 | 2006 | 1992 | 1971 | 1989 | 1988 | 2003 | 2003 | 2005 | 2008 | 2010 | 2009 | 2008 | 2005 |
| Sex | M | F | F | M | F | F | F | M | F | F | F | F | F | F |
| Age at onset, y | 0.6 | 0.8 | 1.2 | 2 | 15.5 | 18.4 | 21.9 | 21.9 | 23.5 | 30.8 | 34 | 35 | 51 | 72.5 |
| Initial diagnosis | HUS | HUS | HUS | nd | HUS | HUS | HUS | HUS | HUS | HUS | HUS | HUS | HUS | NA |
| (Trigger suspected) | (None) | (Infection) | (Infection) | (None) | (Infection) | (OC?) | (PP) | (Cocaine?) | (PP) | (OC?) | (OC?) | (PP) | (None) | (None) |
| First symptoms | ||||||||||||||
| Diarrhea (bloody) | +(−) | − | na | na | +(−) | − | + (−) | +(−) | − | +(−) | na | − | na | − |
| Oligoanuria/AHT | −/+ | +/+ | na | na | −/+ | +/+ | −/+ | +/+ | +/+ | −/− | na | +/+ | na | −/+ |
| Laboratory presentation | ||||||||||||||
| Creatinine, μmol/L | 124 | 108 | na | na | 398 | 885 | 566 | 974 | 1451 | 487 | na | 889 | na | 204 |
| Hemoglobin, g/dL | 4.5 | 6.7 | na | na | 7.3 | 6.3 | 5.8 | 9.1 | 6.7 | 6.2 | na | 6.7 | na | 10 |
| Haptoglobin, g/L | nd | < 0.1 | na | na | < 0.1 | < 0.1 | < 0.1 | < 0.1 | < 0.1 | < 0.1 | na | < 0.1 | na | < 0.1 |
| Schizocytes, % | 6 | 5 | na | na | < 1 | 3-5 | 10 | 3-5 | 3-5 | 3-5 | na | 3-5 | na | nd |
| Platelets counts, ×109/L | 142 | 16 | na | na | 113 | 60 | 79 | 86 | 112 | 67 | na | 226 | na | 280 |
| Nephrotic syndrome | + | + | na | na | + | − | + | + | + | + | na | + | na | − |
| First flare treatment | ||||||||||||||
| Acute hemodialysis | − | + | na | − | − | + | + | + | + | + | na | + | na | − |
| Plasmatherapy | + | + | − | − | + | + | + | + | − | + | + | + | + | − |
| (Details) | 4ET/7 d | 10PE/10 d | 8PE/11 d | 10PE/26 d | 16PE/22 d | 7PE/10 d | 13PE/20 d | na | 6PE/7 d | na | ||||
| Clinical course | ||||||||||||||
| Extrarenal event | Cardiac | Cardiac neurologic | None | None | Neurologic | Cardiac neurologic | Cardiac neurologic | Neurologic | Cardiac | na | Cardiac | Cardiac | Cardiac | |
| Relapse (numnber) | 0 | 1 | 4 | 6 | 1 | 2 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | |
| Renal outcome | ESRD | ESRD | CKD | ESRD | CKD | ESRD | ESRD | ESRD | ESRD | CKD | CKD | CKD | ESRD | ESRD |
| (Delay 1st HUS-ESRD or follow-up of CKD) | (11 y) | (7 mo) | (19 y) | (37 y) | (21 y) | (5 mo) | (4 mo) | (1 mo) | (1mo) | (2 y) | (6 mo) | (2 y) | (12 mo), diseased | (18 mo) |
| Renal transplantation | 3 | 0* | 0 | 0* | 0* | 2* | 0 | 1 | 0* | 0 | 0 | 0 | 0 | 1 |
| Failure (HUS) | 3 (1) | 2 (2) | 1 (1) | |||||||||||
| Others mutations | FHR341H | FH F960S | ||||||||||||
| Homozygous at-risk haplotypes | FH | FH+MCP | MCP | MCP | FH | MCP | H+MCP |
aHUS indicates atypical hemolytic uremic syndrome; F, female; M, male; HUS, hemolytic uremic syndrome; nd, not determined; na, not applicable; NA, nephroangiosclerosis; ESRD, end-stage renal disease; CKD, chronic kidney disease; AHT, arterial hypertension; FH, factor H; MCP, membrane cofactor protein; ET, exchange transfusion; PP, postpartum; OC, oral contraception; PE, plasma exchanges; and PI, plasma infusion.
+ indicates yes; and −, no.
Project of renal transplantation.