Monogenic Kidney Stone - Genetic Testing

Overview

Información sobre este estudio

90 genes related to Monogenic Stone Disease will be determined via DNA analysis by the Mayo Rare Kidney Stone Consortium (RKSC) research staff.

Elegibilidad para la participación

Los requisitos de elegibilidad de los participantes incluyen la edad, el sexo, el tipo y el estadio de la enfermedad, y los problemas de salud o tratamientos previos. Las pautas difieren de un estudio a otro e identifican quiénes pueden o no pueden participar. No hay garantía de que cada persona elegible que desee participar en un ensayo se inscribirá. Comunícate con el equipo del estudio para analizar la elegibilidad del estudio y la posible participación.

Inclusion Criteria:

Participants meet at least one of the following criteria:

  1. Patients <18yrs with a history of kidney stones, and/or nephrocalcinosis, OR
  2. Patients >18yrs with a history of kidney stones, and/or nephrocalcinosis and at least one of the following:
    1. Family history of stones or nephrocalcinosis or unexplained kidney failure
    2. Growth retardation
    3. Metabolic bone disease
    4. Unusual stone composition or pathologic or urinary crystals
    5. Proteinuria
    6. Reduced glomerular filtration rate (GFR)
    7. Hypomagnesemia or hypophosphatemia or hypercalcemia
    8. Increased oxalate
    9. Renal cysts, OR
  3. Patients with a high clinical suspicion for a monogenic kidney stone disease or a disorder of calcium metabolism OR
  4. Patients previously enrolled in the RKSC6406 protocol (identified as legacy samples), "Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria." These patients have already consented for their samples to be used in genetic research and that consent will serve to enroll them in this study, OR
  5. Patients previously enrolled in the RKSC6403 protocol (identified as legacy samples), "Screening for Dent Disease Mutations in Patients with Proteinuria or Hypercalciuria and Calcium Urolithiasis." These patients have already consented for their samples to be used in genetic research and that consent will serve to enroll them in this study, OR
  6. Family member of a patient that meets at least one of the above criteria

Exclusion Criteria:

  1. Stone formers who do not meet the inclusion criteria for clinical suspicion of one of the monogenic kidney stone diseases
  2. Unwilling or unable to provide consent/assent

Sedes participantes de Mayo Clinic

Los estatus de los estudios cambian con frecuencia. Comunícate con el equipo del estudio para obtener la información más actualizada acerca de la posibilidad de participar.

Sede de Mayo Clinic Estatus Contacto

Rochester, Minn.

Investigador principal de Mayo Clinic

David Sas, D.O.

Abierto para la inscripción

Contact information:

Mayo Clinic Hyperoxaluria Center

(800) 270-4637

hyperoxaluriacenter@mayo.edu

More information

Publicaciones

Publications are currently not available