UAB PKD RTCC
Clinical and Translational Core
ClinicalTrials.Gov Identifier NCT04338048

Contact: Lisa Guay-Woodford, Core Director; info@pkd-rrc.org
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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