Familiar Renal Disease, Epidemiology and Genetics in Niteroi/Rio de Janeiro
Condition: Kidney Diseases
MeSH terms: Kidney Diseases
Study type: Observational

Summary: 
      The REGENT study (Familiar Renal Disease, Epidemiology and Genetics in Niteroi/Rio de
      Janeiro) is a epidemiological study that try to identify and clinically describe questions
      about genetic renal diseases in a southeast Brazilian population undergoing renal replacement
      therapy.
    

Detailed description: 
      In Brazil, several kidney diseases have unknown etiological diagnosis, among them, hereditary
      renal diseases. The lack of technical-scientific knowledge and patients' access to the health
      service hinder the correct diagnosis, so that hundreds of patients with chronic kidney
      disease (CKD) are unaware of the origin of their kidney problems. The objective of this
      REGENT study (Renal epidemiology and genetics in Niteroi) is to identify and characterize the
      cases of possible inheritance of CKD in patients undergoing dialysis or kidney transplant
      treatment in the metropolitan region II of the state of Rio de Janeiro. In this metropolitan
      region, based in the city of Niteroi, there are 10 hemodialysis clinics accounting for
      approximately 1500 - 1800 patients. There is a central Hospital that works as an official
      reference center for all those CKD patients (Hospital Universitario Antonio Pedro). This
      hospital belongs to the Universidade Federal Fluminense, an academic research institution,
      where this project will be executed. There is also a kidney transplant unit working at the
      Hospital Universitario Antonio Pedro. Interviews, sociodemographic and clinical data
      collection will be performed in patients with CKD from these centers. The interview contains
      questions about family CKD: Does any family member undergo hemodialysis or peritoneal
      dialysis? Does any family member do/did conservative treatment for CKD? Has any family member
      had a kidney transplant? Has any family member died due to chronic kidney disease? In cases
      of any affirmative answer to one of the above questions, patients will be classified as a
      "family index case". The cases of familial kidney disease caused by diabetes, and polycystic
      kidney disease will be excluded. So, the remaining cases will be considered as "index cases"
      to be more described and characterized. In this way, an affirmative response to the survey
      will create a group of familial CKD, and it will allow us to identify them as a suspected
      genetic kidney disease. These patients will be analyzed as a group, and clinical histories
      and blood tests to genetic renal diseases will also be performed, when possible, depending on
      the availability. From these identified index cases, we will try to create familiar clinical
      description of each individual in every family. A new outpatient section is being created at
      the Hospital Universitario Antonio Pedro to take multidisciplinary care of the relatives and
      entire families in a special type of family primary care.
    

Intervention name(s): blood collection
Intervention type(s): Diagnostic Test
Intervention description(s): They will have blood tested to renal genetic diseases
Observational model: Family-Based
Time perspective: Prospective
Sampling method: Non-Probability Sample
Study population: 
        The population to be studied will be formed by southeast Brazilians that are on renal
        replacement therapy as dialysis or kidney transplantation. Such patients with renal
        diseases will answer a questionnaire about familial involvement. Some of them will be
        characterized as a familial index case of not yet determined genetic kidney disease.
      
Biospecimen description: 
      A blood collection of patients with familial history of renal disease will be done to extract
      DNA and to perform analysis of mutations and sequencing. After that, the samples will not be
      retained.