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Familial atypical hemolytic uremic syndrome with positive p.S1191L (c.3572C>T) mutation on the CFH gene: A single-center experience

F Ersoy Dursun

F Ersoy Dursun

Department of Hematology, Medeniyet University, Goztepe Training and Research HospitalIstanbul, Turkey
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Ersoy Dursun, F
, 
G Yesil

G Yesil

Department of Medical Genetics, Bezmialem Vakif University, School of MedicineIstanbul, Turkey
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Yesil, G
, 
G Sasak

G Sasak

Department of Nephrology, Medeniyat University, Goztepe Training and Research HospitalIstanbul, Turkey
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Sasak, G
 and 
H Dursin

H Dursin

Department of Pediatric Nephrology, Istanbul Health Sciences University, Okmeydani Training and Research HospitalIstanbul, Turkey
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Dursin, H
  
Jul 27, 2021
Familial atypical hemolytic uremic syndrome with positive p.S1191L (c.3572C>T) mutation on the CFH gene: A single-center experience's Cover Image
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Article Category: Original Article
Published Online: Jul 27, 2021
Page range: 81 - 88
DOI: https://doi.org/10.2478/bjmg-2021-0007
Keywords
© 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

Pedigree of the studied family. Squares represent males and circles represent females. The filled black squares/ circles represent affected individuals, while white squares/circles represent unaffected individuals. Struck-through white squares/ circles represent those who died of unknown causes; those who died from CRF are struck-through and grey.
Pedigree of the studied family. Squares represent males and circles represent females. The filled black squares/ circles represent affected individuals, while white squares/circles represent unaffected individuals. Struck-through white squares/ circles represent those who died of unknown causes; those who died from CRF are struck-through and grey.

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
CHF: p.S1191L 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 –
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