Familial atypical hemolytic uremic syndrome with positive p.S1191L (c.3572C>T) mutation on the CFH gene: A single-center experience
, , oraz | 27 lip 2021
O artykule
Article Category: Original Article
Data publikacji: 27 lip 2021
Zakres stron: 81 - 88
DOI: https://doi.org/10.2478/bjmg-2021-0007
Słowa kluczowe
© 2021 Ersoy Dursun F, Yesil G, Sasak G, Dursin H, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Figure 1
Demographic data and laboratory findings of the family members.
| Parameters | ST | DT | MNT | NT | FT | MUT | SA | AA | ŞA | FA | AT | CT | MT | Ref. Ranges |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Relationship | Father | Mother | Brother | Brother | AT’s Aunt | AT’s Nephew | Sister | SA’s Husband | AT’s Nephew | AT’s Nephew | Index | Brother | Brother | |
| Sex-Age (years) | M-78 | F-66 | M-38 | M-26 | F-26 | M-2 | F-30 | M-48 | M-12 | F-9 | M-28 | M-18 | M-23 | |
| WBC (mm3) | 8900.0 | 7600.0 | 10500.0 | 5670.0 | 7400.0 | 19110.0 | 6600.0 | 8200.0 | 5800.0 | 7630.0 | 10300.0 | 5900.0 | 7870.0 | 4000.0-10000.0 |
| Hb (g/dL) | 14.5 | 12.7 | 14.2 | 13.7 | 14.6 | 9.1 | 13.0 | 13.2 | 12.6 | 12.8 | 7.8 | 11.9 | 10.7 | 13.0-17.0 |
| PCV (L/fL) | 0.43 | 0.38 | 0.43 | 0.41 | 0.44 | 0.29 | 0.39 | 0.40 | 0.38 | 0.39 | 0.23 | 0.36 | 0.32 | 0.37-0.54 |
| Platelet count (109/L) | 256.0 | 368.0 | 210.0 | 162.0 | 432.0 | 450.0 | 282.0 | 342.0 | 323.0 | 410.0 | 56.0 | 173.0 | 120.0 | 150.0-500.0 |
| BUN (mg/dL) | 32.0 | 58.0 | 36.0 | 19.0 | 25.0 | 23.0 | 21.0 | 24.0 | 26.0 | 21.0 | 126.0 | 113.0 | 122.0 | 18.0-55.0 |
| Cr (mg/dL) | 0.78 | 0.92 | 0.84 | 0.82 | 0.67 | 0.25 | 0.76 | 0.48 | 0.64 | 0.72 | 7.80 | 7.67 | 7.60 | 0.72-1.25 |
| Total protein (g/dL) | 6.80 | 8.20 | 8.10 | 8.20 | 8.20 | 8.20 | 7.90 | 7.80 | 7.20 | 7.50 | 8.10 | 9.13 | 8.60 | 6.40-8.30 |
| Albumin (g/dL) | 4.20 | 4.30 | 4.40 | 4.70 | 4.80 | 4.29 | 4.60 | 4.10 | 4.00 | 4.30 | 4.40 | 5.10 | 4.40 | 3.50-5.520 |
| AST (IU/L) | 26.0 | 38.0 | 35.0 | 25.0 | 31.0 | 38.0 | 29.0 | 36.0 | 27.0 | 25.0 | 450.0 | 20.0 | 24.0 | <37.0 |
| ALT (IU/L) | 24.0 | 36.0 | 29.0 | 15.0 | 36.0 | 18.0 | 33.0 | 28.0 | 18.0 | 21.0 | 630.0 | 6.0 | 11.0 | <42.0 |
| GGT (IU/L) | 8.0 | 12.0 | 17.0 | 14.0 | 16.0 | 13.0 | 29.0 | 14.0 | 12.0 | 17.0 | 14.0 | 9.0 | 28.0 | <64.0 |
| ALP (IU/L) | 68.0 | 58.0 | 59.0 | 75.0 | 120.0 | 198.0 | 48.0 | 110.0 | 86.0 | 84.0 | 65.0 | 82.0 | 123.0 | <150.0 |
| LDH (IU/L) | 243.0 | 289.0 | 320.0 | 213.0 | 245.0 | 299.0 | 252.0 | 262.0 | 246.0 | 219.0 | 2350.0 | 248.0 | 259.0 | 125.0-220.0 |
| Glucose (mg/dL) | 86.0 | 78.0 | 96.0 | 84.0 | 78.0 | 108.0 | 89.0 | 82.0 | 89.0 | 74.0 | 86.0 | 99.0 | 82.0 | 70.0-105.0 |
| Total bilirubin (mg/dL) | 0.56 | 0.79 | 0.96 | 0.64 | 0.34 | 0.55 | 0.62 | 0.79 | 0.67 | 0.64 | 1.58 | 0.56 | 0.76 | 0.0-1.2 |
| Schistocyte | [–] | [+] | [–] | [–] | [–] | [–] | [–] | [–] | [–] | [–] | [+] | [+] | [+] | – |
| C3 (mg/dL) | 134.0 | 124.0 | 124.2 | 158.0 | 112.0 | 186.0 | 154.0 | 134.0 | 142.0 | 132.0 | 98.0 | 95.4 | 136.0 | 90.0-10.0 |
| C4 (mg/dL) | 26.2 | 28.2 | 26.4 | 29.5 | 22.0 | 34.6 | 26.3 | 24.2 | 23.4 | 21.3 | 7.7 | 27.3 | 38.3 | 10.0-40.0 |
| Proteinuria | [–] | [+] | [–] | [–] | [–] | [+] | [–] | [–] | [–] | [–] | [+++] | anuric | anuric | – |
| Hematuria | [–] | [+] | [–] | [–] | [–] | [+] | [–] | [–] | [–] | [–] | [+++] | anuric | anuric | – |
| Protein/Cr (mg/mg) | <0.2 | <0.2 | <0.2 | <0.2 | <0.2 | 0.70 | <0.2 | <0.2 | <0.2 | <0.2 | 5.6 | anuric | anuric | <0.2 |
| ADAMTS-activity (%) 12 | 97.00 | 96.00 | 84.20 | 77.11 | 94.30 | 120.40 | 67.00 | 88.50 | 92.60 | 102.00 | 99.27 | 98.40 | 83.11 | 40.00-130.00 |
| Haptoglobin (mg/dL) | 16.0 | 17.3 | 16.0 | 18.0 | 19.1 | 18.3 | 17.2 | 18.2 | 19.7 | 18.7 | <10.0 | 17.0 | 19.0 | 14.0-58.0 |
| NM | H | NM | H | NM | H | NM | NM | NM | NM | H | H | H | – | |
| Outcome | healthy | healthy | healthy | healthy | healthy | healthy | healthy | healthy | healthy | healthy | AKI | CRF | CRF | – |