Thrombocytopenia is not mandatory to diagnose haemolytic and uremic syndrome

BMC Nephrology

Stéphane Burtey³  Véronique Frémaux-Bacchi²  Julie Moussi-Francés³  Henri Vacher-Coponat³  Fadi Fakhouri¹  Khalil Ismail³  Marion Sallée³ 

[1] Département de Nephrologie, INSERM UMR643, CHU de Nantes, 1 place Alexis-Ricordeau, Nantes, 44000, France;Service d’immunologie biologique, hôpital Européen Georges-Pompidou, Assistance publique–Hôpitaux de Paris, 20-40, rue Leblanc, Paris cedex 15, 75908, France;APHM, Hopital de la Conception, centre de néphrologie et transplantation rénale, Aix-Marseille Univ, Marseille, 13005, France

关键词: Complement;    Thrombocytopenia;    Hemolytic and uremic syndrome;   

Others  :  1083035
DOI  :  10.1186/1471-2369-14-3

 received in 2012-07-18, accepted in 2013-01-02,  发布年份 2013

【 摘 要 】

Background

Hemolytic and uremic syndrome (HUS) diagnosis involves association of non immune hemolytic anemia, thrombocytopenia, and renal failure. HUS without thrombocytopenia has been observed, we call it partial HUS. Its real frequency and outcome are unknown. The aim of this study was to determine the prevalence of patients with normal platelets count in two HUS cohorts and to compare their outcome to patients with thrombocytopenia.

Methods

We retrospectively identified HUS diagnosis in two different cohorts. The first cohort was from a single center and consisted of all cases of HUS whatever the aetiology, the second was multicentric and consisted of atypical HUS patients. These cohorts were divided into two groups depending on the presence or absence of thrombocytopenia. Clinical and biological data were compared between thrombopenic and non thrombopenic group.

Results

We identified 13% (20/150) of patients with normal platelets count: 10 episodes (18%) of HUS in six patients (14%) in the monocentric cohort and 14 patients (13%) with 17 episodes (12%) in the multicentric cohort of atypical HUS. Groups differed in platelets count and LDH level. In both cohorts, renal outcome was similar to patient presenting with thrombocytopenia.

Conclusion

HUS with normal platelets count is not infrequent. Relative to classical clinical presentation of HUS, partial HUS has similar characteristics and identical poor renal outcome and so must be treated in the same way.

【 授权许可】

   
2013 Sallée et al.; licensee BioMed Central Ltd.

【 参考文献 】

• [1]Kaplan BS, Meyers KE, Schulman SL: The pathogenesis and treatment of hemolytic uremic syndrome. J Am Soc Nephrol 1998, 9(6):1126-1133.
• [2]Tsai HM, Lian EC: Antibodies to von willebrand factor-cleaving protease in acute thrombotic thrombocytopenic purpura. N Engl J Med 1998, 339(22):1585-1594.
• [3]Furlan M, Robles R, Galbusera M, Remuzzi G, Kyrle PA, Brenner B, Krause M, Scharrer I, Aumann V, Mittler U, et al.: von willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome. N Engl J Med 1998, 339(22):1578-1584.
• [4]Fremeaux-Bacchi V, Fakhouri F, Roumenina L, Dragon-Durey MA, Loirat C: Atypical hemolytic-uremic syndrome related to abnormalities within the complement system. Rev Med Interne 2011, 32(4):232-240.
• [5]Noris M, Remuzzi G: Atypical hemolytic-uremic syndrome. N Engl J Med 2009, 361(17):1676-1687.
• [6]Saunders RE, Abarrategui-Garrido C, Fremeaux-Bacchi V, Goicoechea de Jorge E, Goodship TH, Lopez Trascasa M, Noris M, Ponce Castro IM, Remuzzi G, Rodriguez de Cordoba S, et al.: The interactive factor H-atypical hemolytic uremic syndrome mutation database and website, update and integration of membrane cofactor protein and factor I mutations with structural models. Hum Mutat 2007, 28(3):222-234.
• [7]Fremeaux-Bacchi V, Moulton EA, Kavanagh D, Dragon-Durey MA, Blouin J, Caudy A, Arzouk N, Cleper R, Francois M, Guest G, et al.: Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. J Am Soc Nephrol 2006, 17(7):2017-2025.
• [8]Goicoechea De Jorge E, Harris CL, Esparza-Gordillo J, Carreras L, Arranz EA, Garrido CA, Lopez-Trascasa M, Sanchez-Corral P, Morgan BP, Rodriguez De Cordoba S: Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proc Natl Acad Sci U S A 2007, 104(1):240-245.
• [9]Kavanagh D, Kemp EJ, Mayland E, Winney RJ, Duffield JS, Warwick G, Richards A, Ward R, Goodship JA, Goodship TH: Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome. J Am Soc Nephrol 2005, 16(7):2150-2155.
• [10]Kavanagh D, Kemp EJ, Richards A, Burgess RM, Mayland E, Goodship JA, Goodship TH: Does complement factor B have a role in the pathogenesis of atypical HUS? Mol Immunol 2006, 43(7):856-859.
• [11]De Serres SA, Isenring P: Athrombocytopenic thrombotic microangiopathy, a condition that could be overlooked based on current diagnostic criteria. Nephrol Dial Transplant 2009, 24(3):1048-1050.
• [12]Veyradier A, Obert B, Houllier A, Meyer D, Girma JP: Specific von willebrand factor-cleaving protease in thrombotic microangiopathies, a study of 111 cases. Blood 2001, 98(6):1765-1772.
• [13]Sellier-Leclerc AL, Fremeaux-Bacchi V, Dragon-Durey MA, Macher MA, Niaudet P, Guest G, Boudailliez B, Bouissou F, Deschenes G, Gie S, et al.: Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome. J Am Soc Nephrol 2007, 18(8):2392-2400.
• [14]Fakhouri F, Roumenina L, Provot F, Sallee M, Caillard S, Couzi L, Essig M, Ribes D, Dragon-Durey MA, Bridoux F, et al.: Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations. J Am Soc Nephrol 2010, 21(5):859-867.
• [15]Dorresteijn EM, van de Kar NC, Cransberg K: Eculizumab as rescue therapy for atypical hemolytic uremic syndrome with normal platelet count. Pediatric nephrology 2012, 27(7):1193-1195.
• [16]George JN, Terrell DR, Swisher KK, Vesely SK: Lessons learned from the oklahoma thrombotic thrombocytopenic purpura-hemolytic uremic syndrome registry. J Clin Apher 2008, 23(4):129-137.
• [17]Vesely SK, George JN, Lammle B, Studt JD, Alberio L, El-Harake MA, Raskob GE: ADAMTS13 Activity in thrombotic thrombocytopenic purpura-hemolytic uremic syndrome, relation to presenting features and clinical outcomes in a prospective cohort of 142 patients. Blood 2003, 102(1):60-68.