کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3850673 | 1598392 | 2006 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Complement Factor H-Associated Atypical Hemolytic Uremic Syndrome in Monozygotic Twins: Concordant Presentation, Discordant Response to Treatment
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
بیماریهای کلیوی
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چکیده انگلیسی
Hemolytic uremic syndrome not associated with diarrhea (diarrhea negative, atypical) is less common than the diarrhea-positive typical form, but frequently results in end-stage renal failure. Although there are anecdotal cases of successful treatment with fresh frozen plasma alone, the value of this treatment compared with plasma exchange (PE) is difficult to assess. We describe monozygotic female twins who presented at 5 years of age with factor H-related (c.3572 > T; Ser1191Leu) atypical hemolytic uremic syndrome within months of each other. In the first twin to present, 10 sessions of PE with fresh frozen plasma replacement (40 mL/kg) resulted in resolution of hemolysis and improvement in plasma creatinine level (1.9 to 1.5 mg/dL [166 to 137 μmol/L]). Subsequently, 17 infusions of fresh frozen plasma were administered during a 4-month period for recurrent thrombocytopenia. However, within 4 months, plasma creatinine level increased to 5.1 mg/dL (450 μmol/L), necessitating peritoneal dialysis. When the second twin presented with the same disease, an extended PE regimen was instituted. After 10 daily sessions, PE was continued once every 2 weeks. Two recurrences were treated successfully with daily PE for 7 days. After 44 months of follow-up, kidney function is normal (plasma creatinine, 0.6 mg/dL [53 μmol/L]; creatinine clearance, 119 mL/min/1.73 m2 [1.98 mL/s/1.73 m2]) on maintenance PE therapy. In conclusion, the response to treatment of these monozygotic twins suggests that long-term PE may have benefits over plasma infusion alone.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: American Journal of Kidney Diseases - Volume 47, Issue 2, February 2006, Pages e27-e30
Journal: American Journal of Kidney Diseases - Volume 47, Issue 2, February 2006, Pages e27-e30
نویسندگان
Jean-Claude MD, PhD, Karolien H. MD, René MD, Flore MD, Sandrine MD, PhD, Jan J. MD, PhD, Jaap W. MD, PhD, Lisa MD, PhD, Timothy H.J. MD,