UAB PKD RTCC | Clinical and Translational Core

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

Core Resources: Clinical Phenotyping

ClinicalTrials.Gov Identifier NCT01401998

ARPKD/HRFD Cohort: Longitudinal cohort study of patients (0- 29 years of age) with ARPKD or other hepato-renal fibrocystic diseases (HRFD).

Study Sample (as of 3/20/2021):

  • N=149 participants enrolled
  • Age (at enrollment): 0-29 years
  • 44% Female
  • 0.08% Black

Biorepository:

  • DNA
  • Kidney and liver tissue

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 hyponatremia, chronic lung disease, hypertension, growth delay, urinary tract infections
  • Extra-renal manifestations – ascites, cholangitis, peritonitis, varices, GI-bleeding, developmental delay, seizures
  • Renal replacement therapy
  • Dialysis
  • Transplantation
  • Management of GI varices
  • Nutritional support
  • Surgical interventions – nephrectomy, variceal management
  • Medications

2. Family History – including consanguinity

3. Physical Exam:

  • Blood pressure
  • Height / weight
  • Evidence of dysmorphisms
  • 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.Renal and Hepatic imaging

  • Ultrasound
  • MR
  • MR elastography

7. Echocardiography

  • Left Ventricular Mass
  • Left Ventricular Ejection fraction

8. Histopathology

  • Kidney
  • Liver