UAB PKD RTCC | Clinical and Translational Core | ARPKD Cohort
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
- Frozen samples
- Parrafin blocks
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
