Abstract: SA-PO0563
Multidisciplinary Care Needs in Children with ADPKD
Session Information
- Cystic Kidney Diseases: Clinical Research
November 08, 2025 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1201 Genetic Diseases of the Kidneys: Monogenic Kidney Diseases
Authors
- Wink, Krista Renee, Children's National Hospital, Washington, District of Columbia, United States
- Salcedo-Giraldo, Jordy, Children's National Hospital, Washington, District of Columbia, United States
- Brown, Denver D., Children's National Hospital, Washington, District of Columbia, United States
- Gulati, Ashima, Children's National Hospital, Washington, District of Columbia, United States
Background
Autosomal dominant polycystic kidney disease (ADPKD) is often considered to result in an isolated renal involvement in children compared to other forms of childhood PKD including autosomal recessive PKD. However, children with ADPKD may have additional extra-renal care needs including other risk factors for chronic kidney disease (CKD) progression, necessitating multidisciplinary care in addition to nephrology evaluation.
Methods
Clinical and available genetic data from patients with ADPKD evaluated in a pediatric nephrology clinic from 2019-2025 was reviewed. Data analyzed included phenotypic and genotypic risk factors for CKD, extra-renal care needs, and referrals made to specialists outside of nephrology. Patients with TSC2-PKD1 deletion syndrome were not included due to their documented multisystemic manifestations.
Results
A total of N=79 patients with ADPKD, ages <18 years, with at least one clinic visit between 2019-2025 were identified. The mean age at diagnosis was 9.85 years (±5.18 years), N=61 patients had a positive family history of ADPKD, and N=22 patients had ADPKD diagnoses that were genetically confirmed [PKD1 (N=16), PKD2 (N=5), or ALG8 (N=1)]. Among this cohort of patients with ADPKD, N=24 were referred to one specialty outside of nephrology, and an additional N=42 were referred to two or more specialties. The top specialists referred to for additional management outside of nephrology were genetics (N=46 patients), urology (N=19), gastroenterology (N=14), neurology (N=13), cardiology (N=9), and endocrinology (N=7), followed by nutrition, psychology, social work, gynecology, and hematology (N=5 each). Across these specialties, the top reasons for referral were genetic counseling (N=46); enuresis and abnormal liver imaging (N=5 each); abnormal echocardiogram and a dominant enlarged renal cyst (N=4 each); seizure, autism spectrum disorder, postural orthostatic tachycardia syndrome, hydronephrosis, obesity, dyslipidemia, depression, and menorrhagia (N=3 each).
Conclusion
Identification of extra-renal care needs in children with ADPKD can aid in management of both ADPKD-related and ADPKD-independent CKD risk factor, such as dyslipidemia. Recognition of these additional care needs in children with ADPKD can help facilitate multidisciplinary care standards for pediatric PKD-focused clinical programs.
Funding
- Private Foundation Support