Abstract: FR-PO983
A Cross-Sectional Characterization of Young Adult ARPKD Patients – Data from the ARegPKD Cohort Study
Session Information
- PKD Cellular Pathogenesis, ARPKD, ADTKD, Ciliopathies
October 26, 2018 | Location: Exhibit Hall, San Diego Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidney
- 1001 Genetic Diseases of the Kidney: Cystic
Authors
- Burgmaier, Kathrin, University Hospital Cologne, Cologne, Germany
- Benzing, Thomas, University of Cologne, Köln, Germany
- Mekahli, Djalila, KULeuven, Leuven, Belgium
- Ranchin, Bruno, Pediatrics, Lyon, France
- Schaefer, Franz S., University of Heidelberg, Heidelberg, BW, Germany
- Liebau, Max, University Hospital Of Cologne; Children's Hospital, Koeln, Germany
Background
Autosomal recessive polycystic kidney disease (ARPKD) shows pronounced phenotypic variability. Although the classic phenotype is a severe disease of early childhood, a substantial number of ARPKD patients nowadays reaches adulthood and a minor proportion of patients is diagnosed with ARPKD in adulthood. Knowledge about clinical courses of adult patients suffering from ARPKD is scarce.
Methods
A cross-sectional analysis was performed on data sets of 45 adult patients with documented visits after their 18th birthday deriving from the international ARPKD cohort study ARegPKD.
Results
Median age at analysis was 21.4 (18.0-29.0) years, age at diagnosis 0.5 (-0.2-25.0) years. 53.3 % of patients are male. PKHD1 was sequenced in 22/45 patients with a variant detection rate of 78%. One quarter of patients showed prenatal abnormalities. Most frequent symptoms at primary manifestation were extended abdomen with palpable tumor, arterial hypertension and urinary tract infection. One patient suffered from gastrointestinal bleeding at primary manifestation. 22 patients received 34 transplanted organs (median age at first transplantation 14.7 (2.4-42.8) years), with 7 patients receiving at least two transplantations. More than half of the young adults showed hepatomegaly, one third showed splenomegaly. Complications due to portal hypertension in form of varices were observed in one quarter of patients. 84.4% of patients received antihypertensive medication. At the timepoint of analysis renal function of native kidneys lies within CKD stages 1 to 3 in more than 50% of patients, 40.5% of patients received renal replacement therapy in their history.
Conclusion
Although ARPKD is classically a severe pediatric hepatorenal disorder, more and more patients reach adulthood. We describe a well-phenotyped cohort of young adult ARPKD patients setting a basis for the identification of clinical complications evolving in adulthood.
Funding
- Private Foundation Support