Unknown

Dataset Information

0

Steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at NPHS1 and ADCK4 genes in two Chinese siblings.

ABSTRACT: Hereditary nephrotic syndrome often presents with steroid-resistance and onset within the first year of life. Mutations in genes highly expressed in podocytes have been found in two thirds of these patients, especially NPHS1 and NPHS2 among at least 29 genetic causes that have been discovered. We reported two siblings with steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at NPHS1 (c.1339G>A, p.E447K) and ACDK4 (c.748G>C, p.D250H) genes. The siblings presented with steroid-resistant nephrotic syndrome and pathological lesions of focal segmental glomerulosclerosis (FSGS), while the elder sister also developed hypertension, renal failure and cardiac dysfunction.

SUBMITTER: Zhang H 

PROVIDER: S-EPMC5735285 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at <i>NPHS1</i> and <i>ADCK4</i> genes in two Chinese siblings.

Zhang Hongwen H   Wang Fang F   Liu Xiaoyu X   Zhong Xuhui X   Yao Yong Y   Xiao Huijie H  

Intractable & rare diseases research 20171101 4

Hereditary nephrotic syndrome often presents with steroid-resistance and onset within the first year of life. Mutations in genes highly expressed in podocytes have been found in two thirds of these patients, especially <i>NPHS1</i> and <i>NPHS2</i> among at least 29 genetic causes that have been discovered. We reported two siblings with steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at <i>NPHS1</i> (c.1339G>A, p.E447K) and <i>ACDK4</i> (c.748G>C, p.D250H) genes. The s  ...[more]

Similar Datasets

Unknown ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
| S-EPMC3859425 | biostudies-literature
Unknown Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.
| S-EPMC5838795 | biostudies-literature
Unknown Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
| S-EPMC5478193 | biostudies-literature
Unknown Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome.
| S-EPMC8101291 | biostudies-literature
Unknown Defects of CRB2 cause steroid-resistant nephrotic syndrome.
| S-EPMC4289689 | biostudies-literature
Unknown Case Report: The Monogenic Familial Steroid-Resistant Nephrotic Syndrome Caused by a Novel Missense Mutation of <i>NPHS2</i> Gene A593C in a Chinese Family.
| S-EPMC8497038 | biostudies-literature
Unknown Genetic tests in children with steroid-resistant nephrotic syndrome.
| S-EPMC7105627 | biostudies-literature
Unknown Continuous B-cell depletion in frequently relapsing, steroid-dependent and steroid-resistant nephrotic syndrome.
| S-EPMC6452201 | biostudies-literature
Unknown Treatment of steroid-resistant nephrotic syndrome in the genomic era.
| S-EPMC6445770 | biostudies-literature
Unknown Genetic testing in steroid-resistant nephrotic syndrome: when and how?
| S-EPMC6367944 | biostudies-literature