Review
Biochemistry & Molecular Biology
Adrian Cordido, Marta Vizoso-Gonzalez, Miguel A. Garcia-Gonzalez
Summary: ARPKD is a rare disorder linked to the PKHD1 and DZIP1L genes, with research elucidating molecular pathways involved in disease progression. However, understanding of the function of ARPKD proteins and the disease's molecular mechanism remains incomplete.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Pediatrics
Guillaume Dorval, Olivia Boyer, Anne Couderc, Jean-Daniel Delbet, Laurence Heidet, Dominique Debray, Pauline Krug, Muriel Girard, Brigitte Llanas, Marina Charbit, Saoussen Krid, Nathalie Biebuyck, Marc Fila, Cecile Courivaud, Frances Tilley, Nicolas Garcelon, Thomas Blanc, Christophe Chardot, Remi Salomon, Florence Lacaille
Summary: Long-term prognosis of patients with ARPKD is heterogeneous, and age at diagnosis does not play a major role, with few patients requiring liver transplantation mainly due to recurrent cholangitis or uncontrollable portal hypertension. Liver complications after kidney transplantation were not significant in this cohort.
PEDIATRIC NEPHROLOGY
(2021)
Review
Biochemistry & Molecular Biology
L. Lucchetti, M. Chinali, F. Emma, L. Massella
Summary: Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are the most common cystic kidney diseases, with significant differences in genetics and clinical manifestations. Hypertension is a main symptom in both diseases, but the age of onset and secondary cardiovascular complications differ. Systematic screening and monitoring of hypertension and secondary cardiovascular damage in childhood can help manage the disease early and limit the burden in adulthood.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Paraskevi Goggolidou, Taylor Richards
Summary: ARPKD is a genetic kidney disease characterized by bilateral enlargement of cystic kidneys and liver fibrosis. The severity varies, with a high mortality rate in the early stage but good prognosis if surviving the first year. PKHD1 and DZIP1L are the two known genes causing ARPKD, and there may be other genetic modifiers and phenocopies influencing diagnosis.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2022)
Article
Pediatrics
Sebastian Loos, Markus J. Kemper, Kaja Schmaeschke, Uta Herden, Lutz Fischer, Bernd Hoppe, Tanja Kersnik Levart, Enke Grabhorn, Raphael Schild, Jun Oh, Florian Brinkert
Summary: This study retrospectively analyzed the long-term outcomes of 18 pediatric patients with primary hyperoxaluria type 1 (PH1) who underwent combined or sequential liver and kidney transplantation (CLKT/SLKT). The results showed a patient survival rate of 94% and liver and kidney survival rates of 90% and 85%, respectively, after CLKT/SLKT. The outcomes tend to be less optimal in patients with infantile PH1 compared to patients with juvenile PH1.
FRONTIERS IN PEDIATRICS
(2023)
Article
Gastroenterology & Hepatology
Murali K. Yanda, Vartika Tomar, Liudmila Cebotaru
Summary: ARPKD is caused by mutations in the PKHD1 gene, leading to severe complications in neonates. Research shows that FPC malfunction induces cyst formation, and CFTR correctors may be a potential treatment for ARPKD.
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY
(2021)
Editorial Material
Surgery
Somashekara Hosaagrahara Ramakrishna, Akhila Hassan, Mohan Babu Kasala, Karnan Perumal, Chaitra Venkategowda, Selvakumar Malleeswaran, Muthukumar Periasamy, Muruganandham Kaliyaperumal, Rajanikanth Patcha, Joy Varghese, Mettu Srinivas Reddy
Summary: We report a case of a 12-year-old boy with primary hyperoxaluria type 2 who underwent a combined liver and kidney transplant, resulting in normalization of plasma oxalate and creatinine levels immediately and after 18 months.
AMERICAN JOURNAL OF TRANSPLANTATION
(2023)
Review
Pediatrics
Eric G. Benz, Erum A. Hartung
Summary: ADPKD and ARPKD are characterized by bilateral cystic kidney disease with distinct liver manifestations. The clinical presentation and severity of both diseases are wider than previously recognized, and pediatric and adult nephrologists may care for individuals with these diseases in their lifetimes. Genetic, clinical, and imaging predictors can help forecast disease progression, and pharmacologic therapies are available to prevent progression.
PEDIATRIC NEPHROLOGY
(2021)
Article
Medicine, General & Internal
Huixia Li, Chunli Wang, Ruochen Che, Bixia Zheng, Wei Zhou, Songming Huang, Zhanjun Jia, Aihua Zhang, Fei Zhao, Guixia Ding
Summary: Autosomal recessive polycystic kidney disease (ARPKD) is a rare ciliopathy characterized by enlarged kidneys and collecting duct dilatation. There is currently no efficient treatment for ARPKD. We designed antisense oligonucleotides (ASOs) to correct splicing defects and investigated their potential as a treatment option for ARPKD.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Gastroenterology & Hepatology
Murali K. Yanda, Adi Zeidan, Liudmila Cebotaru
Summary: Systemic and portal hypertension, liver fibrosis, and hepatomegaly are manifestations associated with autosomal recessive polycystic kidney disease (ARPKD), which is caused by malfunctions of fibrocystin/polyductin (FPC). Treatment with the cystic fibrosis transmembrane conductance regulator (CFTR) modulator VX-809 can correct CFTR misregulation and improve liver pathology in ARPKD. CFTR correctors show promise as therapeutics for ARPKD.
AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY
(2023)
Review
Pediatrics
Max Christoph Liebau
Summary: ARPKD, a rare disorder in pediatric nephrology, is mainly caused by variants in the PKHD1 gene and presents major clinical variability. Symptoms frequently appear perinatally, posing challenges in management. This review focuses on early manifestations and clinical management, particularly on kidney disease.
PEDIATRIC NEPHROLOGY
(2021)
Article
Medicine, General & Internal
Ahsan Alam, Emilie Cornec-Le Gall, Ronald D. Perrone
Summary: This article describes autosomal dominant polycystic kidney disease, its signs and symptoms, diagnosis, and treatment options.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2023)
Article
Gastroenterology & Hepatology
Bernhard Schlevogt, Vincent Schlieper, Jana Krader, Rita Schroeter, Thomas Wagner, Matthias Weiand, Andree Zibert, Hartmut H. Schmidt, Carsten Bergmann, Pavel Nedvetsky, Michael P. Krahn
Summary: In this study, a variant in the SEC61A1 gene was identified to be associated with the development of polycystic liver disease. The mutant SEC61A1 protein was shown to undergo enhanced proteasomal degradation, resulting in impaired synthesis of polycystin-2.
LIVER INTERNATIONAL
(2023)
Review
Urology & Nephrology
Efrat Ben-Shalom, Sander F. Garrelfs, Jaap W. Groothoff
Summary: The clinical presentation of primary hyperoxaluria in children can range from mild symptoms such as nephrocalcinosis to early onset end-stage kidney failure with systemic oxalosis. Treatment options include medication and dialysis for children with preserved kidney function, and liver or combined liver/kidney transplantation as the only definitive treatment for primary hyperoxaluria type 1. Novel RNA interference treatments offer hope for the future. Pediatricians treating children with hyperoxaluria face medical and ethical dilemmas.
CLINICAL KIDNEY JOURNAL
(2022)
Article
Urology & Nephrology
Kathrin Burgmaier, Leonie Brinker, Florian Erger, Bodo B. Beck, Marcus R. Benz, Carsten Bergmann, Olivia Boyer, Laure Collard, Claudia Dafinger, Marc Fila, Claudia Kowalewska, Baerbel Lange-Sperandio, Laura Massella, Antonio Mastrangelo, Djalila Mekahli, Monika Miklaszewska, Nadina Ortiz-Bruechle, Ludwig Patzer, Larisa Prikhodina, Bruno Ranchin, Nadejda Ranguelov, Raphael Schild, Tomas Seeman, Lale Sever, Przemyslaw Sikora, Maria Szczepanska, Ana Teixeira, Julia Thumfart, Barbara Uetz, Lutz Thorsten Weber, Elke Wuehl, Klaus Zerres, Joerg Doetsch, Franz Schaefer, Max Christoph Liebau
Summary: ARPKD is a severe disease characterized by fibrocystic changes in kidneys and liver, caused by variants in the PKHD1 gene. A study identified new genotype-phenotype correlations, showing that different regions of the gene affect disease severity and outcomes, potentially guiding personalized treatment approaches.
KIDNEY INTERNATIONAL
(2021)