Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease
| Autor: | Ramona Ajiri, Kathrin Burgmaier, Nurver Akinci, Ilse Broekaert, Anja Büscher, Ismail Dursun, Ali Duzova, Loai Akram Eid, Marc Fila, Michaela Gessner, Ibrahim Gokce, Laura Massella, Antonio Mastrangelo, Monika Miklaszewska, Larisa Prikhodina, Bruno Ranchin, Nadejda Ranguelov, Rina Rus, Lale Sever, Julia Thumfart, Lutz Thorsten Weber, Elke Wühl, Alev Yilmaz, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau |
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| Přispěvatelé: | UCL - (SLuc) Département de pédiatrie, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de pédiatrie générale, Ajiri R., Burgmaier K., Akinci N., Broekaert I., Büscher A., Dursun I., Duzova A., Eid L. A., Fila M., Gessner M., et al. |
| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
Internal Diseases
LIVER GENETICS ARPKD Medizin CHILDREN PKHD1 Sağlık Bilimleri İç Hastalıkları Clinical Medicine (MED) CONGENITAL HEPATIC-FIBROSIS UROLOGY & NEPHROLOGY Health Sciences Fibrocystin Klinik Tıp (MED) ÜROLOJİ VE NEFROLOJİ PRENATAL-DIAGNOSIS Internal Medicine Sciences Klinik Tıp RENAL-TRANSPLANTATION MUTATIONS PKD Dahili Tıp Bilimleri CLINICAL MEDICINE Ciliopathies Tıp CLINICAL-EXPERIENCE Nefroloji Nephrology DZIP1L Medicine |
| Zdroj: | Kidney international reports, Vol. 7, no.7, p. 1643-1652 (2022) |
| Popis: | © 2022 International Society of NephrologyIntroduction: Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disorder characterized by early onset fibrocystic hepatorenal changes. Previous reports have documented pronounced phenotypic variability even among siblings in terms of patient survival. The underlying causes for this clinical variability are incompletely understood. Methods: We present the longitudinal clinical courses of 35 sibling pairs included in the ARPKD registry study ARegPKD, encompassing data on primary manifestation, prenatal and perinatal findings, genetic testing, and family history, including kidney function, liver involvement, and radiological findings. Results: We identified 70 siblings from 35 families with a median age of 0.7 (interquartile range 0.1–6.0) years at initial diagnosis and a median follow-up time of 3.5 (0.2–6.2) years. Data on PKHD1 variants were available for 37 patients from 21 families. There were 8 patients from 7 families who required kidney replacement therapy (KRT) during follow-up. For 44 patients from 26 families, antihypertensive therapy was documented. Furthermore, 37 patients from 24 families had signs of portal hypertension with 9 patients from 6 families having substantial hepatic complications. Interestingly, pronounced variability in the clinical course of functional kidney disease was documented in only 3 sibling pairs. In 17 of 20 families of our cohort of neonatal survivors, siblings had only minor differences of kidney function at a comparable age. Conclusion: In patients surviving the neonatal period, our longitudinal follow-up of 70 ARPKD siblings from 35 families revealed comparable clinical courses of kidney and liver diseases in most families. The data suggest a strong impact of the underlying genotype. |
| Databáze: | OpenAIRE |
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