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• W2007214423 abstract "In July 2001, a 6‐year‐old female Haitian child was referred for treatment of a seventh relapse of a familial thrombotic microangiopathy (TMA). The usual treatment by plasma infusions (10 mL kg−1) was efficient allowing a clinical remission in 2 weeks. The onset of the disease occurred as soon as birth with jaundice, distress, severe hemolytic anemia and thrombocytopenia requiring exchange transfusions. Relapses were unpredictable with a free interval varying from 5 weeks to 2 years. During relapses, severe mechanical hemolytic anemia with schistocytosis and severe thrombocytopenia were constant although visceral ischemic manifestations were not systematic. Two relapses were characterized by the presence of stage I coma with cerebral ischemic lesions on magnetic resonance imaging angiography. Further biological testing, focused on both von Willebrand factor (VWF), a multimeric glycoprotein released in plasma from endothelial cells and essential for platelet aggregation in the microcirculation, and its specific cleaving‐protease, ADAMTS‐13 (A Disintegrin And Metalloprotease with ThromboSpondin type 1 repeats), allowed to classify this familial TMA as an inherited thrombotic thrombocytopenic purpura (TTP) or Upshaw‐Schulman syndrome (USS) [1Fujimura Y. Matsumoto M. Yagi H. Yoshioka A. Matsui T. Titani K. Von Willebrand factor‐cleaving protease and Upshaw‐Schulman syndrome.Int J Hematol. 2002; 75: 25-34Crossref PubMed Scopus (67) Google Scholar, 2Levy G.G. Nichols W.C. Lian E.C. Foroud T. Mc Clintick J.N. Mc Gee B.M. Yang A.Y. Siemieniak D.R. Stark K.R. Gruppo R. Sarod R. Shurin S.B. Chandrasekaran V. Stabler S.P. Sabio H. Bouhassira E.E. Upshaw Jr, J.D. Ginsburg D. Tsaï H.M. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura.Nature. 2001; 413: 488-94Crossref PubMed Scopus (1435) Google Scholar]. Indeed, in our patient, USS was confirmed by an undetectable ADAMTS‐13 activity in plasma related to a homozygous Ala596Val ADAMTS‐13 mutation inherited from both her mother and her father who are healthy heterozygous carriers [3Veyradier A. Lavergne J.M. Ribba A.S. Obert B. Loirat C. Meyer D. Girma J.P. Ten candidate ADAMTS13 mutations in six French families with congenital thrombocytopenic purpura (Upshaw‐Schulman syndrome).J Thromb Haemost. 2004; 2: 424-9Abstract Full Text Full Text PDF PubMed Scopus (106) Google Scholar]. Although patients with USS have a constant severe ADAMTS‐13 enzymatic deficiency in plasma, about half of them do not exhibit a chronic disease but only sporadic TTP relapses with symptom‐free intervals. In these cases, the identification of triggering factors for acute TTP episodes is essential to try to prevent relapses. Physiological or pathological conditions known to stimulate the release of large VWF multimers from endothelial cells in plasma (infections, inflammation, estroprogestative contraception, pregnancy) are well‐established triggering contexts for TTP relapses. In our patient, all TTP previous acute episodes were associated with infections. Surprisingly, no obvious clinical context could be identified during the current relapse that led us to screen more systematically the recent events potentially involved in the trigger of this acute TTP episode. In addition, we were puzzled by the failure to create a subcutaneous radial arteriovenous fistula (in order to administer preventive monthly plasma infusions) because of recurrent local thrombosis. Unexpectedly, the patient's mother indicated that she had been giving her daughter who was enuretic, a specific intranasal treatment every evening for several weeks, including during hospitalization. The drug was identified as desmopressin (a synthetic form of anti‐diuretic hormone, 1‐desamino‐8‐D‐arginine or DDAVP), a classical treatment for enuresis and diabetes insipidus [4Gaines K.K. Desmopressin (DDAVP) for enuresis, diabetes insipidus, and ….Urol Nurs. 2004; 24: 520-3Google Scholar]. The critical piece of the puzzle is that intranasal desmopressin used at 10‐ to 15‐fold higher doses is also able to stimulate the release of VWF from endothelial cells into plasma. This property is used in the treatment of most patients with type 1 von Willebrand disease, a bleeding disorder defined by a partial quantitative deficiency of VWF. In our patient, considering ADAMTS‐13 severe deficiency, we can speculate that very low doses of desmopressin were sufficient to pass the threshold of circulating ultralarge multimers of VWF beyond which spontaneous platelet aggregation and thus microvascular thrombus formation occur. In other words, desmopressin was very likely the unexpected triggering factor of the current TTP relapse, and maybe also of vascular access thrombosis. Notice that the child never had a TTP relapse during the 4 years following desmopressin cessation. The involvement of desmopressin in the trigger of USS acute episodes has been reported only once [5Hara T. Kitano A. Kajiwara T. Kondo T. Sakai K. Hamasaki Y. Factor VIII concentrate‐responsive thrombocytopenia, hemolytic anemia and nephropathy.Am J Pediatr Hematol Oncol. 1986; 8: 324-8Crossref PubMed Scopus (22) Google Scholar]. In this case, desmopressin had been used intentionally because of a misanalysis of the role of VWF in USS pathogenesis and it did aggravate the TTP symptoms. Another patient with acquired TTP was also aggravated by the administration of intravenous desmopressin given to correct the bleeding time [6Overman M. Brass E. Worsening of thrombotic thrombocytopenic purpura symptoms associated with desmopressin administration.Thromb Haemost. 2004; 92: 886-7Crossref PubMed Scopus (10) Google Scholar]. Recently, the better understanding of ADAMTS‐13 related role of VWF in USS pathophysiology led to clearly contra‐indicate any drug inducing the release of VWF from endothelial cells to plasma (especially estroprogestatives and desmopressin) in patients with USS. In this particular context, pediatricians should keep in mind the tricky association of enuresis and USS." @default.
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• W2007214423 title "Desmopressin, an unexpected link between nocturnal enuresis and inherited thrombotic thrombocytopenic purpura (Upshaw‐Schulman syndrome)" @default.
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• W2007214423 doi "https://doi.org/10.1111/j.1538-7836.2005.01768.x" @default.
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