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

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

Journal of the American Society of Nephrology : JASN - 1 Mar 2004

Ruf Rainer G, Lichtenberger Anne, Karle Stephanie M, Haas Johannes P, Anacleto Franzisco E, Schultheiss Michael, Zalewski Isabella, Imm Anita, Ruf Eva-Maria, Mucha Bettina, Bagga Arvind, Neuhaus Thomas, Fuchshuber Arno, Bakkaloglu Aysin, Hildebrandt Friedhelm

Abstract excerpt

Nephrotic syndrome (NS) represents the association of proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Steroid-resistant NS (SRNS) is defined by primary resistance to standard steroid therapy. It remains one of the most intractable causes of ESRD in the first two decades of life. Mutation...

Read the complete abstract on PubMed

Topics

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

Share to Glucocorticoids
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Intracellular Signaling Peptides and Proteins

Share to Membrane Proteins

Share to Nephrotic Syndrome

Share to Prednisone

Share to Treatment Failure

Source

Identifiers

PMID: 14978175
DOI: 10.1097/01.asn.0000113552.59155.72

Genes

NPHS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14978175-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.PMID 14978175Read ↗

NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children.Semantic proximity Read ↗

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.Semantic proximity Read ↗

Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.Semantic proximity Read ↗

Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.Semantic proximity Read ↗

NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.Semantic proximity Read ↗

Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant.Semantic proximity Read ↗

Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

NPHS Mutations in Pediatric Patients with Congenital and Steroid-Resistant Nephrotic Syndrome.Semantic proximity Read ↗

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

NPHS2 mutations in children with steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis.Semantic proximity Read ↗

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