Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)
| Autor: | Rosalie B Sterenborg, Jörg Dötsch, Bert Bammens, Samuel Kilian, Elke Wühl, Sarah Verbeeck, Djalila Mekahli, Rukshana Shroff, Günter Klaus, Kathrin Burgmaier, Gordana Milosevski-Lomic, Katja Sauerstein, Thomas Benzing, Laurence Michel-Calemard, Dorota Wicher, Franziska Grundmann, Bruno Ranchin, Lutz T. Weber, Franz Schaefer, Heiko Billing, Susanne Schaefer, Anja Büscher, Matthias Galiano, Max C. Liebau |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Liver Cirrhosis Male Pediatrics LIVER medicine.medical_treatment Medizin PROTEIN lcsh:Medicine Liver transplantation Kidney urologic and male genital diseases PKHD1 MUTATIONS 0302 clinical medicine Longitudinal Studies ENCODES Young adult lcsh:Science Kidney transplantation Multidisciplinary ASSOCIATION Autosomal recessive polycystic kidney disease (ARPKD) Autosomal Recessive Polycystic Kidney Disease Multidisciplinary Sciences Liver Science & Technology - Other Topics Female Adult medicine.medical_specialty Adolescent Liver fibrosis Renal function PATIENT Article 03 medical and health sciences Young Adult Polycystic kidney disease medicine Humans Renal Insufficiency Chronic Polycystic Kidney Autosomal Recessive Science & Technology business.industry lcsh:R medicine.disease GENE Kidney Transplantation Liver Transplantation Transplantation SIZE 030104 developmental biology Cross-Sectional Studies lcsh:Q Differential diagnosis business 030217 neurology & neurosurgery |
| Zdroj: | Scientific Reports Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019) |
| Popis: | Autosomal recessive polycystic kidney disease (ARPKD) is a severe pediatric hepatorenal disorder with pronounced phenotypic variability. A substantial number of patients with early diagnosis reaches adulthood and some patients are not diagnosed until adulthood. Yet, clinical knowledge about adult ARPKD patients is scarce. Here, we describe forty-nine patients with longitudinal follow-up into young adulthood that were identified in the international ARPKD cohort study ARegPKD. Forty-five patients were evaluated in a cross-sectional analysis at a mean age of 21.4 (±3.3) years describing hepatorenal findings. Renal function of native kidneys was within CKD stages 1 to 3 in more than 50% of the patients. Symptoms of hepatic involvement were frequently detected. Fourteen (31%) patients had undergone kidney transplantation and six patients (13%) had undergone liver transplantation or combined liver and kidney transplantation prior to the visit revealing a wide variability of clinical courses. Hepatorenal involvement and preceding complications in other organs were also evaluated in a time-to-event analysis. In summary, we characterize the broad clinical spectrum of young adult ARPKD patients. Importantly, many patients have a stable renal and hepatic situation in young adulthood. ARPKD should also be considered as a differential diagnosis in young adults with fibrocystic hepatorenal disease. ispartof: SCIENTIFIC REPORTS vol:9 issue:1 ispartof: location:England status: published |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|