A curious case of haemolysis, seizure and acute renal failure associated with pregnancy
Tóm tắt
Differential diagnosis between thrombotic microangiopathies in pregnancy is challenging due to overlapping clinical and pathological findings and the rapid progression of disease. We present here an unusual case of Haemolysis, Elevated Liver enzymes and Low Platelets (HELLP) syndrome, which represents this diagnostic dilemma. The patient was treated with steroids and plasma exchange, leading to a favourable outcome. Subsequent genetic testing for complement dysregulation revealed a previously unknown variant in intron 3 of the gene coding for the alternative complement pathway factor H: (c.350+9T>C). We discuss here the diagnostic dilemma presented, the treatment pathway in the current literature, and the potential involvement of complement deregulation in severe HELLP. This case underlines the complexity in the diagnosis and management of pregnancy-related thrombotic microangiopathies.
Tài liệu tham khảo
Fang CJ, Richards A, Liszewski MK, Kavanagh D, Atkinson JP (2008) Advances in understanding of pathogenesis of aHUS and HELLP. Br J Haematol 143(3):336–348
Noris M, Remuzzi G (2009) Atypical hemolytic–uremic syndrome. N Engl J Med 361:1676–1687
Fang CJ, Fremeaux-Bacchi V, Liszewski MK, Pianetti G, Noris M, Goodship THJ et al (2008) Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome. Blood 111(2):624–632
Fakhouri F, Jablonski M, Lepercq J, Blouin J, Benachi A, Hourmant M et al (2008) Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome. Blood 112(12):4542–4545
Kavanagh D, Anderson HE (2012) Interpretation of genetic variants of uncertain significance in atypical hemolytic uremic syndrome. Kidney Int 81(1):11–13
Haram K (2009) The HELLP syndrome: clinical issues and management. A review. BMC Pregnancy Childbirth 9:8
Sibai BM (2009) Imitators of severe pre-eclampsia. Semin Perinatol 33(3):10
Lynch AMA, Salmon JEJ (2010) Dysregulated complement activation as a common pathway of injury in preeclampsia and other pregnancy complications. Placenta 31(7):7
Noris M, Remuzzi G (2005) Hemolytic uremic syndrome. J Am Soc Nephrol 16:1035–1050
Fremeaux-Bacchi V (2012) Treatment of atypical uraemic syndrome in the era of eculizumab. Clin Kidney J 5(1):4–6