Research & Literature

Paradoxical increase in blood pressure following bilateral native nephrectomy.

Ajlan BA, Safdar OY, Shalabi M, Kari JA

Clinical case reports 2015; (3(7)):553-7 doi:10.1002/ccr3.296.

Early bilateral nephrectomy in infantile autosomal recessive polycystic kidney disease.

Mallett TM, O'Hagan E, McKeever KG

BMJ case reports 2015; (2015()).

Kidney Disease Progression in Autosomal Recessive Polycystic Kidney Disease.

Dell KM, Matheson M, Hartung EA, et al.

The Journal of pediatrics 2016; (171()):196-201.e1.

Recurrent Cholangitis in a Patient with Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Caroli's Disease.

Hasegawa E, Sawa N, Hoshino J, et al.

Internal medicine (Tokyo, Japan) 2016; (55(20)):3009-3012 doi:10.2169/internalmedicine.55.6818.

Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases.

Alzarka B, Morizono H, Bollman JW, et al.

Frontiers in pediatrics 2017; (5()):80 doi:10.3389/fped.2017.00080.

Diagnosis and Management of Hepatobiliary Complications in Autosomal Recessive Polycystic Kidney Disease.

Wehrman A, Kriegermeier A, Wen J

Frontiers in pediatrics 2017; (5()):124 doi:10.3389/fped.2017.00124.

Gastrostomy Tube Insertion in Pediatric Patients With Autosomal Recessive Polycystic Kidney Disease (ARPKD): Current Practice.

Burgmaier K, Brandt J, Shroff R, et al.

Frontiers in pediatrics 2018; (6()):164 doi:10.3389/fped.2018.00164.

A teenage patient with autosomal recessive polycystic kidney disease, a splenorenal shunt, and congenital hepatic fibrosis: a case report.

Scarioti VD, Oliveira LT, Mattiello AC, Gomes NDS

Jornal brasileiro de nefrologia 2019; (41(2)):300-303 doi:10.1590/2175-8239-JBN-2018-0081.

Autosomal recessive polycystic kidney disease (ARPKD) in a Nigerian newborn: a case report.

Bolaji O, Erinomo O, Adebara O, et al.

The Pan African medical journal 2018; (30()):172 doi:10.11604/pamj.2018.30.172.15202.

Prenatal ultrasonography of autosomal dominant polycystic kidney disease mimicking recessive type: case series.

Garel J, Lefebvre M, Cassart M, et al.

Pediatric radiology 2019; (49(7)):906-912 doi:10.1007/s00247-018-4325-3.

Transient Elastography for Detection of Liver Fibrosis in Children With Autosomal Recessive Polycystic Kidney Disease.

Wicher D, Jankowska I, Lipiński P, et al.

Frontiers in pediatrics 2018; (6()):422 doi:10.3389/fped.2018.00422.

Cardiac Abnormalities in Children with Autosomal Recessive Polycystic Kidney Disease.

Chinali M, Lucchetti L, Ricotta A, et al.

Cardiorenal medicine 2019; (9(3)):180-189 doi:10.1159/000496473.

Ultrasound Elastography to Quantify Liver Disease Severity in Autosomal Recessive Polycystic Kidney Disease.

Hartung EA, Wen J, Poznick L, et al.

The Journal of pediatrics 2019; (209()):107-115.e5 doi:10.1016/j.jpeds.2019.01.055.

Extracorporeal Membrane Oxygenation for Neonates with Congenital Renal and Urological Anomalies and Pulmonary Hypoplasia: A Case Report and Review of the Extracorporeal Life Support Organization Registry.

Bagdure D, Torres N, Walker LK, et al.

Journal of pediatric intensive care 2017; (6(3)):188-193 doi:10.1055/s-0037-1598036.

The "salt and pepper" pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases.

Iorio P, Heidet L, Rutten C, et al.

Pediatric nephrology (Berlin, Germany) 2020; (35(6)):1033-1040 doi:10.1007/s00467-020-04480-z.

Multi-parametric MRI of kidney disease progression for autosomal recessive polycystic kidney disease: mouse model and initial patient results.

MacAskill CJ, Erokwu BO, Markley M, et al.

Pediatric research 2021; (89(1)):157-162 doi:10.1038/s41390-020-0883-9.

A Chinese family of autosomal recessive polycystic kidney disease identified by whole exome sequencing.

Zhang J, Dai LM, Li FR, et al.

Medicine 2020; (99(22)):e20413 doi:10.1097/MD.0000000000020413.

Magnetic resonance elastography to quantify liver disease severity in autosomal recessive polycystic kidney disease.

Hartung EA, Calle-Toro JS, Lopera CM, et al.

Abdominal radiology (New York) 2021; (46(2)):570-580 doi:10.1007/s00261-020-02694-1.

Possible PKHD1 Hot-spot Mutations Related to Early Kidney Function Failure or Hepatofibrosis in Chinese Children with ARPKD: A Retrospective Single Center Cohort Study and Literature Review.

Qiu LR, Xu RR, Tang JH, Zhou JH

Current medical science 2020; (40(5)):835-844 doi:10.1007/s11596-020-2268-z.

Long-term kidney and liver outcome in 50 children with autosomal recessive polycystic kidney disease.

Dorval G, Boyer O, Couderc A, et al.

Pediatric nephrology (Berlin, Germany) 2021; (36(5)):1165-1173 doi:10.1007/s00467-020-04808-9.

Intrahepatic bile ductal ectasia in autosomal recessive polycystic kidney disease evaluated by fetal magnetic resonance imaging: a more frequent complication.

Fazecas T, Castro P, Matos AP, et al.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2022; (35(22)):4424-4426 doi:10.1080/14767058.2020.1850681.

Autosomal Recessive Polycystic Kidney Disease-The Clinical Aspects and Diagnostic Challenges.

Wicher D, Obrycki Ł, Jankowska I

Journal of pediatric genetics 2021; (10(1)):1-8 doi:10.1055/s-0040-1714701.

Loss of Cilia Does Not Slow Liver Disease Progression in Mouse Models of Autosomal Recessive Polycystic Kidney Disease.

Gallagher AR, Somlo S

Kidney360 2020; (1(9)):962-968 doi:10.34067/kid.0001022019.

Systematic review on outcomes used in clinical research on autosomal recessive polycystic kidney disease-are patient-centered outcomes our blind spot?

Gimpel C, Liebau MC, Schaefer F

Pediatric nephrology (Berlin, Germany) 2021; (36(12)):3841-3851 doi:10.1007/s00467-021-05192-8.

[Clinical feature and genetic analysis of a fetus with autosomal recessive polycystic kidney disease].

Xyu S, Xyu C, Lyu Y, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021; (38(9)):880-883 doi:10.3760/cma.j.cn511374-20200617-00447.

Rare variants in PKHD1 associated with Caroli syndrome: Two case reports.

Giacobbe C, Di Dato F, Palma D, et al.

Molecular genetics & genomic medicine 2022; (10(8)):e1998 doi:10.1002/mgg3.1998.

Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease.

Ajiri R, Burgmaier K, Akinci N, et al.

Kidney international reports 2022; (7(7)):1643-1652 doi:10.1016/j.ekir.2022.04.095.

Design of two ongoing clinical trials of tolvaptan in the treatment of pediatric patients with autosomal recessive polycystic kidney disease.

Mekahli D, Liebau MC, Cadnapaphornchai MA, et al.

BMC nephrology 2023; (24(1)):33 doi:10.1186/s12882-023-03072-x.

Shift from severe hypotension to salt-dependent hypertension in a child with autosomal recessive polycystic kidney disease after bilateral nephrectomies: a case report.

Ruzgiene D, Abraityte L, Azukaitis K, et al.

BMC nephrology 2023; (24(1)):86 doi:10.1186/s12882-023-03140-2.

Short-Term Outcome of Isolated Kidney Transplantation in Children with Autosomal Recessive Polycystic Kidney Disease: A Case Series and Literature Review.

Acharya R, Upadhyay K

Clinics and practice 2023; (14(1)):24-30 doi:10.3390/clinpract14010003.

Renal Pathology of Ciliopathies.

Sekar T, Sebire NJ

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2024; (27(5)):411-425 doi:10.1177/10935266241242173.

Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of PKHD1.

Zhang X, Wu J, Zhou J, et al.

Frontiers in genetics 2024; (15()):1429336 doi:10.3389/fgene.2024.1429336.

[Autosomal recessive polycystic kidney disease in a girl].

Xu XY, Zhou QM, Tian YF, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2024; (26(9)):954-960 doi:10.7499/j.issn.1008-8830.2401066.

An infant case of autosomal recessive polycystic kidney disease-associated dilated cardiomyopathy-like hypertensive cardiomyopathy diagnosed because of urinary tract infection.

Akiba T, Tanaka N, Nakagawa M, et al.

Cardiology in the young 2024; (34(8)):1835-1837 doi:10.1017/S1047951124025496.

Von-Meyenburg Complex: A Case of Elevated Gamma-GT.

Martins JD, Ferreira M, Teixeira da Silva F

Cureus 2024; (16(10)):e71347 doi:10.7759/cureus.71347.

A Rare Diagnosis of Caroli Syndrome in a Young Patient.

Karimzadeh-Soureshjani E, Pourhasan F, Simab PA, et al.

Clinical case reports 2025; (13(6)):e70555 doi:10.1002/ccr3.70555.

Gene therapy for pediatric genetic kidney diseases.

Lu Y, Song Y, Sun S, et al.

Pediatric discovery.. 2023; (1(1)):e16 doi:10.1002/pdi3.16.

Identification of PDIA6 Mutation in a Case of Autosomal Recessive Polycystic Kidney Disease: A Case Report and Review of Literature.

Al-Hadidi RH, Abu Sirhan LA

Clinical genetics 2026; (109(3)):586-590 doi:10.1111/cge.70074.

Clinical outcomes of liver transplantation in Caroli syndrome: a retrospective analysis.

Hou F, Xiong HF, Liu Y, et al.

Orphanet journal of rare diseases 2025; (20(1)):497 doi:10.1186/s13023-025-03943-6.

Qualitative Analysis and Comparison of Externally Led Patient-Focused Drug Development Concepts for Autosomal Recessive Polycystic Kidney Disease Against SONG Initiatives.

Soyfer B, Fedeles S, Ruyle W, et al.

Kidney medicine 2025; (7(11)):101110 doi:10.1016/j.xkme.2025.101110.

Case Report: An atypical case of ARPKD highlights the utility and challenges of implementing genetic testing in cystic kidney disease.

Marquez J, Hawkins LM, Beck AE, et al.

Frontiers in pediatrics 2025; (13()):1677417 doi:10.3389/fped.2025.1677417.

Ductal plate malformation revisited ‒ Hepatobiliary manifestations of polycystic kidney and liver disease.

Romero-Martínez M, Gómez Gómez A, Sánchez Martínez M, et al.

Revista espanola de enfermedades digestivas 2025; doi:10.17235/reed.2025.11734/2025.

Predictors of kidney survival in children with autosomal recessive polycystic kidney disease.

Çiçek N, Gökçe İ, Alavanda C, et al.

Clinical and experimental nephrology 2026; (30(3)):446-457 doi:10.1007/s10157-025-02801-w.

Novel compound heterozygous PKHD1 mutations in a Chinese ARPKD pedigree and analysis of genotype-phenotype correlations.

Zhao J, Yu K, Huang Y

Frontiers in medicine 2026; (13()):1741795 doi:10.3389/fmed.2026.1741795.

Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.

Lapunzina-Soler P, Shabaka A, Peces R, et al.

Genes 2026; (17(2)) doi:10.3390/genes17020229.