Results 21 to 30 of about 23,951 (234)

An Empirical Biomarker-based Calculator for Autosomal Recessive Polycystic Kidney Disease - The Nieto-Narayan Formula [PDF]

, 2016
Autosomal polycystic kidney disease (ARPKD) is associated with progressive enlargement of the kidneys fuelled by the formation and expansion of fluid-filled cysts.
Goldberg, Itzhak D., Narayan, Prakash, Nieto, Jake A., Yamin, Michael A.   +3 more
core   +5 more sources

A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease

Frontiers in Genetics, 2023
Objective: Variants of the polycystic kidney and hepatic disease 1 (PKHD1) gene are associated with autosomal recessive polycystic kidney disease (ARPKD).
Mingzhu Miao, Li-qun Feng, Jue Wang, Cheng Xu, Xiaotian Su, Guoying Zhang, Shoulian Lu   +6 more
semanticscholar   +1 more source

Polycystic liver disease: an overview of clinical manifestations, diagnosis, and treatment [PDF]

Kosin Medical Journal, 2023
Polycystic liver disease (PLD) is a hereditary disease characterized by the presence of 20 or more liver cysts. It is classified into three types: isolated autosomal dominant PLD, PLD with autosomal dominant polycystic kidney disease, and PLD with ...
Joonho Jeong, Hyun Joon Park
doaj   +1 more source

Portal hypertension syndrome in children with autosomal recessive polycystic kidney disease with liver cysts and hepatic fibrosis

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2023
Hepatic fibrosis, liver cysts, and portal hypertension are extrarenal manifestations that determine the prognosis of autosomal recessive polycystic kidney disease in children.Purpose. To assess the features of the manifestation and course of liver cystic
E. Andreeva, I. V. Dyug, L. G. Goryacheva, N. Savenkova   +3 more
semanticscholar   +1 more source

Autosomal-recessive polycystic kidney disease [PDF]

Kidney International, 2005
Keywords: end-stage renal disease, congenital hepatic fibrosis, Bardet-Biedel syndrome ...
  +6 more sources

Autosomal Recessive Polycystic Kidney Disease

Journal of Neonatal Surgery, 2014
Please see ...
Linda Bloom, Kassa Darge
openaire   +4 more sources

Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases

Acta Medica Lituanica, 2021
Kidney cysts are the most common kidney lesion, while congenital kidney cysts are mostly found in pediatric population. Neonatal kidney cysts can develop due to fetal malformations, rare genetic disorders or can be acquired which is very rare.
Dovilė Ruzgienė, Meda Sutkevičiūtė, Birutė Burnytė, Kristina Grigalionienė, Augustina Jankauskienė   +4 more
doaj   +1 more source

Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel-Gruber Syndrome 8 in a Non-Consanguineous Chinese Family. [PDF]

Mol Genet Genomic Med
Genetic analysis of the fetus with Meckel–Gruber syndrome 8 and the spectrum of TCTN2 variants. ABSTRACT Introduction Meckel‐Gruber syndrome (MKS, OMIM 24,900), also known as Meckel syndrome, is a rare and severe autosomal recessive disorder. The syndrome is typically characterized by a triad of occipital encephalocele, bilateral renal cystic dysplasia,
Yang Q, He W, Zhang Q, Yi S, Zhou X, Zhang S, Yi S, Zhang Q, Luo J.   +8 more
europepmc   +2 more sources

Contribution of Afferent Renal Nerves to Cystogenesis and Arterial Pressure Regulation in a Preclinical Model of Autosomal Recessive Polycystic Kidney Disease.

AJP - Renal Physiology, 2022
Polycystic kidney disease (PKD) is the most common inheritable cause of kidney failure, and the underlying mechanisms remain incompletely uncovered. Renal nerves contribute to hypertension and chronic kidney disease - frequent complications of PKD. There
Madeline M Gauthier, Melissa R. Dennis, M. Morales, H. Brooks, C. Banek   +4 more
semanticscholar   +1 more source

Temporal Profile of Kynurenine Pathway Metabolites in a Rodent Model of Autosomal Recessive Polycystic Kidney Disease

International Journal of Tryptophan Research, 2022
Autosomal recessive polycystic kidney disease (ARPKD) is an early onset genetic disorder characterized by numerous renal cysts resulting in end stage renal disease.
A. Pires, Shabarni Gupta, Sean A. Barton, Roshana Vander Wall, V. Tan, B. Heng, J. Phillips, Gilles J. Guillemin   +7 more
semanticscholar   +1 more source