Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical and pathological features of a neonate with autosomal recessive polycystic kidney disease caused by a nonsense PKHD1 mutation.

World journal of pediatrics : WJP - 1 Feb 2013

Zhou Xi-Hui, Hui Zhi-Yan, Li Yuan

Abstract excerpt

BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary nephropathies in childhood. We report a neonate with ARPKD presenting with oligohydramnios, enlargement and increased echogenicity of both kidneys shown by antenatal sonograms after a 29-week gestation and died within the first few hours of life. METHODS: The neonate was investigated pathologically post-mortem....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Codon, Nonsense
Share to Fatal Outcome
Share to PKHD1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Mutation

Share to Polycystic Kidney, Autosomal Recessive

Share to Receptors, Cell Surface

Source

Identifiers

PMID: 23389334
DOI: 10.1007/s12519-013-0407-3

Genes

PKHD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and pathological features of a neonate with autosomal recessive polycystic kidney disease caused by a nonsense PKHD1 mutation.PMID 23389334Read ↗

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcomeSemantic proximity Read ↗

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome.Semantic proximity Read ↗

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

A novel mutation identified in PKHD1 by targeted exome sequencing: guiding prenatal diagnosis for an ARPKD family.Semantic proximity Read ↗

Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).Semantic proximity Read ↗

Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.Semantic proximity Read ↗

A rare cause of echogenic kidneys with oligohydramnios in the fetus: report of two different cases.Semantic proximity Read ↗

Neonatal polycystic kidney disease: a novel variant.Semantic proximity Read ↗

Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease.Semantic proximity Read ↗

Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramniosSemantic proximity Read ↗

Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations.Semantic proximity Read ↗

Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.