UAB PKD RTCC | Clinical and Translational Core | ADPedKD-US Cohort | Pediatric ADPKD

Clinical and Translational Core
ClinicalTrials.Gov Identifier NCT04338048

Contact: Lisa Guay-Woodford, Core Director;
Core Resources — Clinical Phenotyping

ADPedKD-US Cohort: Longitudinal cohort study of patients (< 18 years of age) with ADPKD. US node of ADPedKD international database.

Study Sample (as of 3/31/2021):

  • N=20 participants enrolled
  • Age (at enrollment): 3-18 years
  • 59% Female
  • 0.06% Black

Biorepository: none

Clinical Phenotyping
1. Clinical history:

  • Age of diagnosis
  • Age at death, cause
  • Prenatal history, including gestational age at diagnosis, oligo-/an-hydramnios
  • Neonatal history, including delivery, Apgar scores, respiratory support, complications
  • History of hypertension, growth delay, urinary tract infections
  • Renal replacement therapy
  • Dialysis
  • Transplantation
  • Nutritional support
  • Medications, including tolvaptan

2. Family History – including consanguinity; age of ESKD of affected family members; history of extra-renal complications, e.g. intra-cranial aneurysms and liver cystic disease.

3. Physical Exam:

  • Blood pressure
  • Height / weight
  • Tanner stage

4. Clinical Laboratory Results

  • Electrolytes and cystatin-C (estimated GFR from CKiD equation and/or Bedside Schwartz formula)
    LFTs, including GGT
  • Cbc; CRP
  • Serum lipid profile
  • Urine protein/creatinine ratio; urine calcium to creatinine ratio

5. Genetic testing

6. Imaging

  • Ultrasound – kidney / liver
  • MR — kidney / liver / brain
  • MR elastography

7. Echocardiography:

  • Left Ventricular Mass
  • Left Ventricular Ejection fraction

8. Histopathology

  • Kidney
  • Liver

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