Dataset Information

Lessons learned from hemolytic uremic syndrome registries: recommendations for implementation.

ABSTRACT:

Background

Hemolytic uremic syndrome (HUS) is a rare condition which diagnosed with the triad of thrombocytopenia, microangiopathic hemolytic anemia, and acute renal injury. There is a high requirement for research to discover treatments. HUS registries can be used as an important information infrastructure. In this study, we identified and compared the different features of HUS registries to present a guide for the development and implementation of HUS registries.

Results

The purposes of registries were classified as clinical (9 registries), research (7 registries), and epidemiological (5 registries), and only 3 registries pursued all three types of purposes. The data set included demographic data, medical and family history, para-clinical and diagnostic measures, treatment and pharmacological data, complications, and outcomes. The assessment strategies of data quality included monthly evaluation and data audit, the participation of physicians to collect data, editing and correcting data errors, increasing the rate of data completion, following guidelines and data quality training, using specific data quality indicators, and real-time evaluation of data at the time of data entry. 8 registries include atypical HUS patients, and 7 registries include all patients regardless of age. Only two registries focused on children. 4 registries apply prospective and 4 applied both prospective, and retrospective data collection. Finally, specialized hospitals were the main data source for these registries.

Conclusion

Based on the findings, we suggested a learning framework for developing and implementing an HUS registry. This framework includes lessons learned and suggestions for HUS registry purposes, minimum data set, data quality assurance, data collection methods, inclusion and exclusion criteria as well as data sources. This framework can help researchers develop HUS registries.

SUBMITTER: Lazem M

PROVIDER: S-EPMC8146148 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Background Patients with Hemolytic Uremic Syndrome (HUS) face late diagnosis and lack of appropriate treatment because of a lack of knowledge and experience in this field. A prerequisite for such knowledge is the development of research infrastructures such as a registry system. Therefore, this study aimed to develop and describe the HUS registry in accordance with the Iranian health system and implement its software system. Methods We first interviewed 10 pediatric nephrologists and after analyzing the interviews, we identified the features and requirements and the data related to HUS. Then, during two rounds of the Delphi technique (the first round with 23 participants and the second round with 18 participants), the model of this registry was finalized based on the agreement of at least 75% of specialists. At the next step, based on the agreed requirements, IRI.HUS.Reg (Iranian Hemolytic Uremic Syndrome Registry) software was developed and implemented in a pediatric hospital. Results We classified 369 meaning units of interviews in 41 codes and 7 final themes including purposes of the registry (10 codes), inclusion criteria (7 codes), data collection method (4 codes), data quality control (6 codes), data sources (4 codes), data analysis (3 codes) and software features (7 codes). These 7 feature groups (67 subgroups) and 12 data classes (138 data elements) include demographic data, referrals, examinations, clinical signs, causes, laboratory tests, medical histories, paraclinical measures, treatments, outcomes, patient’s status at discharge, and follow-up data were reviewed by the Delphi panelists, and finally, 64 features and 131 data elements were accepted by at least 78% agreement. Then, we developed and implemented a registry software system in a hospital. Conclusion We implemented IRI.HUS.Reg based on related features, 12 data classes agreed by specialists, literature review, and comparison with other existing registries. Therefore, the data collected in this registry can be compared with other data from existing registries in other countries. Supplementary Information The online version contains supplementary material available at 10.1186/s13023-022-02376-9.

Project description:BackgroundThe hemolytic-uremic syndrome consists of the triad of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. The common form of the syndrome is triggered by infection with Shiga toxin-producing bacteria and has a favorable outcome. The less common form of the syndrome, called atypical hemolytic-uremic syndrome, accounts for about 10% of cases, and patients with this form of the syndrome have a poor prognosis. Approximately half of the patients with atypical hemolytic-uremic syndrome have mutations in genes that regulate the complement system. Genetic factors in the remaining cases are unknown. We studied the role of thrombomodulin, an endothelial glycoprotein with anticoagulant, antiinflammatory, and cytoprotective properties, in atypical hemolytic-uremic syndrome.MethodsWe sequenced the entire thrombomodulin gene (THBD) in 152 patients with atypical hemolytic-uremic syndrome and in 380 controls. Using purified proteins and cell-expression systems, we investigated whether thrombomodulin regulates the complement system, and we characterized the mechanisms. We evaluated the effects of thrombomodulin missense mutations associated with atypical hemolytic-uremic syndrome on complement activation by expressing thrombomodulin variants in cultured cells.ResultsOf 152 patients with atypical hemolytic-uremic syndrome, 7 unrelated patients had six different heterozygous missense THBD mutations. In vitro, thrombomodulin binds to C3b and factor H (CFH) and negatively regulates complement by accelerating factor I-mediated inactivation of C3b in the presence of cofactors, CFH or C4b binding protein. By promoting activation of the plasma procarboxypeptidase B, thrombomodulin also accelerates the inactivation of anaphylatoxins C3a and C5a. Cultured cells expressing thrombomodulin variants associated with atypical hemolytic-uremic syndrome had diminished capacity to inactivate C3b and to activate procarboxypeptidase B and were thus less protected from activated complement.ConclusionsMutations that impair the function of thrombomodulin occur in about 5% of patients with atypical hemolytic-uremic syndrome.