Gastric duplication cyst in an infant with Finnish-type congenital nephrotic syndrome: concurrence or coincidence?

Güngör, Tülin; Eroğlu, Fehime Kara; Çakıcı, Evrim Kargın; Yazılıtaş, Fatma; Can, Gökçe; Çelikkaya, Evra; Karakaya, Deniz; Şükür, Eda Didem Kurt; Özaltın, Fatih; Yağız, Beytullah; Bülbül, Mehmet

doi:10.1080/17843286.2019.1675333

Cited by 2 publications

(2 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The main mutated genes in CNS include NPHS1, NPHS2, WTI, PLCE1 , and LAMB2 ; of these, NPHS1 is the most common pathogenic gene. [10] The NPHS1 gene is located on chromosomal region 19q13.1 and can transcribe 4.3Kb of mRNA. Furthermore, NPHS1 codes for the nephrin protein, and which features 1241 amino acid residues and is a key component of the interpodocyte-spanning slit diaphragm.…”

Section: Discussionmentioning

confidence: 99%

A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report

Xie

Zhang

et al. 2023

Medicine

View full text Add to dashboard Cite

Rationale: Congenital nephrotic syndrome (CNS) is a heterogeneous disorder in which massive proteinuria, hypoproteinemia, and hyperlipidemia and marked edema are the main manifestations before 3 months-of-age. Here, we present a case involving the genetic diagnosis of a child with CNS.Patient concerns: A 31-day-old male infant with diarrhea for 25 days and generalized edema for more than 10 days. There was no family history of kidney disease. On proband whole exome sequencing, a compound heterozygous mutation of the NPHS1 gene was identified, including a novel in-frame mutation in exon 14 (c.1864_1866dupACC p. T622dup) and a missense mutation in exon 8 (c.928G>A p. D310N).Diagnoses: Based on the clinical and genetic findings, this patient was finally diagnosed with CNS. Interventions:The main treatment options for the patient were 2-fold: anti-infective treatment and symptomatic treatment.Outcomes: The patient died in follow-up 2 months later; the specific reason for death was unclear.Lessons: Whole exome sequencing and Sanger sequencing confirmed that the infant had CNS. Our study identified a novel mutation in an infant, thus expanding the gene-mutation spectrum of the NPHS1 gene, thus providing an efficient prenatal screening strategy and early genetic counseling.Abbreviations: AFP = alpha-fetoprotein, CNF = CNS of the Finnish type, CNS = congenital nephrotic syndrome, WES = whole exome sequencing.

show abstract

Section: Discussionmentioning

confidence: 99%

A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report

Xie

Zhang

et al. 2023

Medicine

View full text Add to dashboard Cite

show abstract

“…Primary nephrotic syndrome (PNS) is a common kidney disease in children, and its pathogenesis remains unclear. Most studies suggest that the pathogenesis of PNS may be related to the disorders of immune function, especially the disorders of Th1/Th2 and the cytokine network [ 1 ]. Patients with renal disease are very susceptible to a variety of infections; and even if the infection is not serious, it often makes PNS relapse or affect the curative efficacy of treatment [ 2 , 3 ].…”

Section: Introductionmentioning

confidence: 99%

Effects of Huaiqihuang Granules adjuvant therapy in children with primary nephrotic syndrome

Zhou

Xiao²,

Chen

et al. 2019

Open Life Sciences

View full text Add to dashboard Cite

ObjectiveThis study aims to observe the curative effect of Huaiqihuang Granules adjuvant therapy on primary nephrotic syndrome (PNS).MethodsA total of 112 children with PNS were randomly divided into three groups, and changes in serum inflammatory cytokines, interleukin, lymphocyte subsets and immunoglobulin were observed.ResultsBefore treatment, IL-18, TNF-α, CD8+ increased, while IL-10, CD4+, NK cells, IgA, IgG and Foxp3+Treg cells decreased. After Huaiqihuang Granules treatment, IL-18, TNF-α, CD8+ decreased, while IL-10, CD4+, NK cells, IgA, IgG and Foxp3+Treg cells increased.ConclusionFunctions of cell immunity and humoral immunity in PNS patients before treatment were suppressed and disordered. Huaiqihuang granules can play a role in immunoregulation, with slight side reactions.

show abstract

Gastric duplication cyst in an infant with Finnish-type congenital nephrotic syndrome: concurrence or coincidence?

Cited by 2 publications

References 10 publications

A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report

A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report

Effects of Huaiqihuang Granules adjuvant therapy in children with primary nephrotic syndrome

Contact Info

Product

Resources

About