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

Neonatal nephrotic presentation of a child with heterozygous NPHS1 mutation.

Pediatric nephrology (Berlin, Germany) - 1 Jun 2006

Lemley Kevin V

Abstract excerpt

Congenital nephrotic syndrome of the Finnish type, due to homozygous mutation of NPHS1, is the most common form of congenital nephrotic syndrome. Angiotensin converting enzyme (ACE) and prostaglandin synthesis inhibition along with supportive albumin infusion therapy, with or without unilateral nephrectomy, has allowed management of the disease without dialysis until transplantation in some cases of congenital...

Read the complete abstract on PubMed

Topics

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

Share to Angiotensin-Converting Enzyme Inhibitors
Share to NPHS1 gene
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Membrane Proteins

Share to Mutation

Share to Nephrotic Syndrome

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 16703378
DOI: 10.1007/s00467-006-0095-5

Genes

NPHS1
ACE
NPHS2

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

Neonatal nephrotic presentation of a child with heterozygous NPHS1 mutation.PMID 16703378Read ↗

[A case of severe congenital nephrotic syndrome secondary to NPHS1 mutation].Semantic proximity Read ↗

Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

Molecular pathology of nephrotic syndrome in childhood: a contemporary approach to diagnosis.Semantic proximity Read ↗

Expanding the clinical spectrum of congenital nephrotic syndrome caused by NPHS1 mutations.Semantic proximity Read ↗

Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1.Semantic proximity Read ↗

Congenital nephrotic syndrome with a novel NPHS1 mutation.Semantic proximity Read ↗

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.Semantic proximity Read ↗

Prenatal diagnosis of congenital nephrotic syndrome (CNF, NPHS1).Semantic proximity Read ↗

Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.Semantic proximity Read ↗

A case report of congenital nephrotic syndrome caused by new mutations of NPHS1.Semantic proximity Read ↗

Treatment and outcome of congenital nephrotic syndrome.Semantic proximity Read ↗

Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients.Semantic proximity Read ↗

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