Association of renal function in iTTP with nonsynonymous polymorphisms in the coding area of complement or complement-related genes
| Gene . | Protein change . | CADD score . | ID . | Creatinine (mg/dL) . | Time to first normal Cr, d . | Variant effect . | Other comorbidities . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Admission . | Peak . | Nadir . | Discharge . | Follow-up . | |||||||
| CFHR5 | P391L | 26.1 | TTP-067 | 2.3 | 4.2 | 1.6 | 3.4 | 3.8 | Never | n/a | CVA (2010), HTN, DM and h/o prostate CA |
| M514R | 22.1 | TTP-272 | 2.4 | 2.4 | 1.5 | 2 | 2.7 | Never | Conflicting interpretations of pathogenicity | HTN and DM | |
| C568X | 35 | TTP-181 | 1.8 | 2.1 | 1.6 | 1.7 | 1.8 | Never | Benign | CVA (residual deficits) | |
| DGKE | D379N | 33 | TTP-231 | 10.5 | 11.9 | 2.3 | 2.3 | 2.3 | Never | n/a | None |
| THBD | G502R | 21.7 | TTP-138 | 4.7 | 4.7 | 1.7 | 1.7 | 1 | 7 | Conflicting interpretations of pathogenicity | ITP dx 2013, tx rituximab |
| n/a | n/a | n/a | TTP-79 | 4.3 | 6.9 | 1 | 1 | 1 | 6 | n/a | HIV, GERD, HSV, DM2, and OSA |
| n/a | na | n/a | TTP-203 | 7 | 13 | 3 | 5 | 8.4 | Never | n/a | ESRD, Afib, HTN, and CAD |
| C5 | Q19X | 36 | TTP-112 | 0.9 | 0.9 | 0.7 | 0.7 | 0.7 | Normal | C5 deficiency | None |
| A258T/A252T | 32 | TTP-079 | 1.7 | 1.7 | 1.2 | 1.2 | 1.1 | 19 | Benign | None | |
| R934Q/R928Q | 34 | TTP-008 | 1 | 1.8 | 0.9 | 0.9 | n/a | Exacerbation twice and died | C5 deficiency | None | |
| Gene . | Protein change . | CADD score . | ID . | Creatinine (mg/dL) . | Time to first normal Cr, d . | Variant effect . | Other comorbidities . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Admission . | Peak . | Nadir . | Discharge . | Follow-up . | |||||||
| CFHR5 | P391L | 26.1 | TTP-067 | 2.3 | 4.2 | 1.6 | 3.4 | 3.8 | Never | n/a | CVA (2010), HTN, DM and h/o prostate CA |
| M514R | 22.1 | TTP-272 | 2.4 | 2.4 | 1.5 | 2 | 2.7 | Never | Conflicting interpretations of pathogenicity | HTN and DM | |
| C568X | 35 | TTP-181 | 1.8 | 2.1 | 1.6 | 1.7 | 1.8 | Never | Benign | CVA (residual deficits) | |
| DGKE | D379N | 33 | TTP-231 | 10.5 | 11.9 | 2.3 | 2.3 | 2.3 | Never | n/a | None |
| THBD | G502R | 21.7 | TTP-138 | 4.7 | 4.7 | 1.7 | 1.7 | 1 | 7 | Conflicting interpretations of pathogenicity | ITP dx 2013, tx rituximab |
| n/a | n/a | n/a | TTP-79 | 4.3 | 6.9 | 1 | 1 | 1 | 6 | n/a | HIV, GERD, HSV, DM2, and OSA |
| n/a | na | n/a | TTP-203 | 7 | 13 | 3 | 5 | 8.4 | Never | n/a | ESRD, Afib, HTN, and CAD |
| C5 | Q19X | 36 | TTP-112 | 0.9 | 0.9 | 0.7 | 0.7 | 0.7 | Normal | C5 deficiency | None |
| A258T/A252T | 32 | TTP-079 | 1.7 | 1.7 | 1.2 | 1.2 | 1.1 | 19 | Benign | None | |
| R934Q/R928Q | 34 | TTP-008 | 1 | 1.8 | 0.9 | 0.9 | n/a | Exacerbation twice and died | C5 deficiency | None | |
Afib, atrial fibrillation; CA, cancer; CAD, coronary arterial disease; Cr, creatinine; CVA, cerebral vascular accident; DM, diabetes mellitus; DM2: type 2 diabetes mellitus; dx, diagnosis; ESRD, end stage renal disease; GERD, gastroesophageal reflux disease; HSV, herpes simplex virus; HTN: hypertension; h/o, history of; ITP, idiopathic thrombocytopenic purpura; n/a, not available; OSA, obstructive sleep apnea; ID, patient serial identification; tx, treatment.