REVIEW article
Front. Med.
Sec. Hematology
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1576934
Congenital Thrombotic Thrombocytopenia Purpura with Chronic Kidney Disease
Provisionally accepted
- 1Nanchang University, Nanchang, Jiangxi Province, China
- 2Department of Nephrology, Second Affiliated Hospital of Nanchang University, Nanchang, China
- 3Jiangxi Province Key Laboratory of Molecular Medicine, Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi Province, China
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In April 2023, a 21-year-old man with a history of thrombocytopenia at the age of 13 years presented to our hospital with right ankle pain. During his hospitalization, laboratory tests revealed severe thrombocytopenia (platelet 5.0×109/L) and chronic kidney disease (CKD) (24-hour urinary protein quantity 5560.0 mg/24h, estimated glomerular filtration rate 50.2 ml/min·1.73m2). Due to the refractory thrombocytopenia the patient underwent a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13) testing. The results demonstrated an activity level of 40.0%, and no ADAMTS13 inhibitor was detected. This outcome may have been influenced by plasma transfusions administered prior to testing, which could lead to a temporary exclusion of thrombotic thrombocytopenic purpura (TTP). In January 2024, the patient developed neurologic abnormalities during a visit to an outside hospital and returned to our hospital for treatment. Subsequent genetic testing revealed 2 heterozygous mutations: c.1335del (p.Phe445LeufsTer52) and c.1045C>T (p.Arg349Cys), confirming the diagnosis of congenital thrombotic thrombocytopenic purpura (cTTP). A repeat ADAMTS13 test revealed an activity level of 0.0%, with no inhibitor detected. At the time of this report, the patient was receiving fresh frozen plasma (FFP) infusions every 2-3 weeks, maintaining a stable platelet count of 95.0-120.0×10⁹/L, and his overall condition was stable. In this review, we reported a rare case of cTTP characterized by CKD, proposed mechanisms of second hit of cTTP by infection and CKD in cTTP patients, found c.3178C>T to be a common mutation and often associated with late onset, and made recommendations for the diagnosis and treatment of cTTP.
Keywords: congenital thrombocytopenia purpura1, chronic kidney disease2, second hit3, diagnosis4, Treatment5
Received: 26 Mar 2025; Accepted: 08 Jul 2025.
Copyright: © 2025 Ding, Li and Xu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Gaosi Xu, Department of Nephrology, Second Affiliated Hospital of Nanchang University, Nanchang, China
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