Universität zu Köln

Ajiri, Ramona, Burgmaier, Kathrin, Akinci, Nurver, Broekaert, Ilse, Buescher, Anja, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Fila, Marc ORCID: 0000-0001-8857-7100, Gessner, Michaela, Gokce, Ibrahim, Massella, Laura, Mastrangelo, Antonio, Miklaszewska, Monika, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Rus, Rina, Sever, Lale, Thumfart, Julia, Weber, Lutz Thorsten, Wuehl, Elke, Yilmaz, Alev, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2022). Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease. Kidney Int. Rep., 7 (7). S. 1643 - 1653. NEW YORK: ELSEVIER SCIENCE INC. ISSN 2468-0249

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Abstract

Introduction: 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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Ajiri, Ramona UNSPECIFIED UNSPECIFIED UNSPECIFIED Burgmaier, Kathrin UNSPECIFIED UNSPECIFIED UNSPECIFIED Akinci, Nurver UNSPECIFIED UNSPECIFIED UNSPECIFIED Broekaert, Ilse UNSPECIFIED UNSPECIFIED UNSPECIFIED Buescher, Anja UNSPECIFIED UNSPECIFIED UNSPECIFIED Dursun, Ismail UNSPECIFIED UNSPECIFIED UNSPECIFIED Duzova, Ali UNSPECIFIED UNSPECIFIED UNSPECIFIED Eid, Loai Akram UNSPECIFIED UNSPECIFIED UNSPECIFIED Fila, Marc UNSPECIFIED orcid.org/0000-0001-8857-7100 UNSPECIFIED Gessner, Michaela UNSPECIFIED UNSPECIFIED UNSPECIFIED Gokce, Ibrahim UNSPECIFIED UNSPECIFIED UNSPECIFIED Massella, Laura UNSPECIFIED UNSPECIFIED UNSPECIFIED Mastrangelo, Antonio UNSPECIFIED UNSPECIFIED UNSPECIFIED Miklaszewska, Monika UNSPECIFIED UNSPECIFIED UNSPECIFIED Prikhodina, Larisa UNSPECIFIED UNSPECIFIED UNSPECIFIED Ranchin, Bruno UNSPECIFIED UNSPECIFIED UNSPECIFIED Ranguelov, Nadejda UNSPECIFIED UNSPECIFIED UNSPECIFIED Rus, Rina UNSPECIFIED UNSPECIFIED UNSPECIFIED Sever, Lale UNSPECIFIED UNSPECIFIED UNSPECIFIED Thumfart, Julia UNSPECIFIED UNSPECIFIED UNSPECIFIED Weber, Lutz Thorsten UNSPECIFIED UNSPECIFIED UNSPECIFIED Wuehl, Elke UNSPECIFIED UNSPECIFIED UNSPECIFIED Yilmaz, Alev UNSPECIFIED UNSPECIFIED UNSPECIFIED Doetsch, Joerg UNSPECIFIED UNSPECIFIED UNSPECIFIED Schaefer, Franz UNSPECIFIED UNSPECIFIED UNSPECIFIED Liebau, Max Christoph UNSPECIFIED orcid.org/0000-0003-0494-9080 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-696962
DOI:	10.1016/j.ekir.2022.04.095
Journal or Publication Title:	Kidney Int. Rep.
Volume:	7
Number:	7
Page Range:	S. 1643 - 1653
Date:	2022
Publisher:	ELSEVIER SCIENCE INC
Place of Publication:	NEW YORK
ISSN:	2468-0249
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language CONGENITAL HEPATIC-FIBROSIS; RENAL-TRANSPLANTATION; CLINICAL-EXPERIENCE; PRENATAL-DIAGNOSIS; CHILDREN; ARPKD; MUTATIONS; GENETICS; LIVER Multiple languages Urology & Nephrology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/69696