Publications by authors named "Jieqiu Zhuang"

Article Synopsis
  • Congenital anomalies of the kidney and urinary tracts (CAKUT) are a major cause of kidney failure in children, and the study aimed to explore the genetic diversity and identify risk factors for kidney failure among these children.
  • Researchers analyzed clinical and genetic data from 925 children with CAKUT across China, finding that 10.3% had a genetic diagnosis, with certain genetic variants being linked to an increased risk of kidney failure.
  • The study identified specific prognostic factors for kidney failure, such as having a solitary kidney, certain variants, and being born prematurely, highlighting the need for targeted monitoring in at-risk populations.
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School urinary screening programming can be useful for the early detection of renal and urinary disorders. However, urine screening is not included in the school health check-up in our region. Therefore, from February 2012 to March 2021, 12,497 school students were screened for urinalysis, and a long-term follow-up took place an electronic medical record system.

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Background: In recent years, B-cell dysfunction has been found to play an important role in the pathogenesis of primary nephrotic syndrome (PNS). B cells play a pathogenic role by secreting antibodies against their target antigens after transforming into plasma cells. Therefore, this study aimed to screen the autoantibodies that cause PNS and explore their pathogenic mechanisms.

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Background: Pathogenic variants of PAX2 cause autosomal-dominant PAX2-related disorder, which includes variable phenotypes ranging from renal coloboma syndrome (RCS), congenital anomalies of the kidney and urinary tract (CAKUT) to nephrosis. Phenotypic variability makes it difficult to define the phenotypic spectrum associated with genotype.

Methods: We collected the phenotypes in patients enrolled in the China national multicenter registry who were diagnosed with pathogenic variant in PAX2 and reviewed all published cases with PAX2-related disorders.

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Article Synopsis
  • The study focuses on pediatric nephropathy in China, utilizing a national registry to analyze the genetic and phenotypic features of kidney disease among children from 2014 to 2020.
  • Genetic testing showed that 39.1% of patients had confirmed genetic diagnoses, with common conditions including steroid-resistant nephrotic syndrome, glomerulonephritis, and congenital kidney anomalies.
  • The research highlights the effectiveness of family-based exome sequencing and emphasizes the importance of integrating genetic and phenotypic data for accurate diagnoses in kidney diseases.
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Objective: To study the clinical features of vesicoureteral reflux (VUR) in children with neurogenic bladder (NB), and to provide a reference for its early diagnosis and treatment.

Methods: Clinical data were collected from 26 children with NB and urinary tract infection who were admitted to the Department of Pediatric Nephrology from January 2014 to December 2019. According to the presence or absence of VUR, the children were divided into a VUR group with 11 children and a non-VUR group with 15 children.

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Article Synopsis
  • - A study analyzed data from the Chinese Children Genetic Kidney Disease Database to understand the characteristics of pediatric Gitelman syndrome (GS), focusing on patients with SLC12A3 gene variants.
  • - The cohort included 32 patients, revealing that 31% were asymptomatic, while the most common symptom was muscle weakness, affecting 50% of the patients, with an average diagnosis age of about 7.8 years.
  • - The findings indicated that patients with homozygous variants and the specific p.(T60M) variant experienced earlier onset of symptoms and had lower urinary calcium excretion compared to other genetic variations.
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SPS1-related proline/alanine-rich kinase (SPAK) plays important roles in regulating the function of numerous ion channels and transporters. With-no-lysine (WNK) kinase phosphorylates SPAK kinase to active the SPAK signaling pathway. Our previous studies indicated that WNK kinases regulate the activity of the large-conductance Ca-activated K (BK) channel and its protein expression via the ERK1/2 signaling pathway.

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The water channel aquaporin 2 (AQP2) has four phosphorylation sites at Ser256, Ser261, Ser264, and Ser269 in the C-terminus and these sites are important for AQP2 bioactivity. However, the exact role of each phosphorylation site still remains unclear. In this study, we generated unique AQP2 mutants in which we eliminated three phosphorylation sites but maintained only one site at the C-terminal end.

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Objective: To study the long-term prognosis of vesicoureteral reflux in children.

Methods: A retrospective analysis was performed for the clinical data of 138 children (218 ureters with reflux) who were diagnosed with vesicoureteral reflux for the first time from November 2005 to March 2017 and received medical treatment and regular follow-up. According to the initial grade of reflux, the ureters with reflux were divided into a low-grade group (141 ureters, grade I-III) and a high-grade group (77 ureters, grade IV-V), and the two groups were compared in terms of clinical data and follow-up results.

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G protein pathway suppressor 2 (GPS2) is a multifunctional protein and transcriptional regulation factor that is involved in the G protein MAPK signaling pathway. It has been shown that the MAPK signaling pathway plays an important role in the regulation of renal large-conductance Ca-activated potassium (BK) channels. In this study, we investigated the effects of GPS2 on BK channel activity and protein expression.

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Rationale: Methylmalonic acidemia (MMA) is a common organic acidemia, mainly due to methylmalonyl-CoA mutase (MCM) or its coenzyme cobalamin (VitB12) metabolic disorders. Cobalamin C (CblC) type is the most frequent inborn error of cobalamin metabolism; it can develop symptoms in childhood and often combine multisystem damage, which leads to methylmalonic acid, propionic acid, methyl citrate, and other metabolites abnormal accumulation, causing nerve, liver, kidney, bone marrow, and other organ damage.

Patient Concerns: A 4-year-old girl presented with paleness, fatigue, severe normochromic anemia, and acute kidney injury.

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Matrine (MAT) is an active alkaloid extracted from Radix Sophora flavescens. The present study was to investigate whether MAT could effectively treat Adriamycin-induced nephropathy (AIN). AIN was induced in rats using a single injection of Adriamycin (ADR).

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Background: WNK kinase is a serine/threonine kinase that plays an important role in normal blood pressure homeostasis. WNK3 was previously found to enhance the activity of sodium chloride cotransporter (NCC) in Xenopus oocyte. However, the mechanism through which it works remains unclear.

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Thiazide-sensitive sodium chloride cotransporter (NCC) plays an important role in maintaining blood pressure. Aldosterone is known to modulate NCC abundance. Previous studies reported that dietary salts modulated NCC abundance through either WNK4 [with no lysine (k) kinase 4]-SPAK (Ste20-related proline alanine-rich kinase) or WNK4-extracellular signal-regulated kinase-1 and -2 (ERK1/2) signaling pathways.

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With no lysine (WNK) kinases are members of the serine/threonine kinase family. We previously showed that WNK4 inhibits renal large-conductance Ca(2+)-activated K(+) (BK) channel activity by enhancing its degradation through a lysosomal pathway. In this study, we investigated the effect of WNK1 on BK channel activity.

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WNK [with no lysine (K)] kinase is a subfamily of serine/threonine kinases. Mutations in two members of this family (WNK1 and WNK4) cause pseudohypoaldosteronism type II featuring hypertension, hyperkalemia, and metabolic acidosis. WNK1 and WNK4 were shown to regulate sodium chloride cotransporter (NCC) activity through phosphorylating SPAK and OSR1.

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WNK [with no lysine (k)] kinase is a serine/threonine kinase subfamily. Mutations in two of the WNK kinases result in pseudohypoaldosteronism type II (PHA II) characterized by hypertension, hyperkalemia, and metabolic acidosis. Recent studies showed that both WNK1 and WNK4 inhibit ROMK activity.

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Dynamin is a large GTPase involved in several distinct modes of cell endocytosis. In this study, we examined the possible role of dynamin in UT-A1 internalization. The direct relationship of UT-A1 and dynamin was identified by coimmunoprecipitation.

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WNK kinase is a serine/threonine kinase that plays an important role in electrolyte homeostasis. WNK4 significantly inhibits the surface expression of the sodium chloride co-transporter (NCC) by enhancing the degradation of NCC through a lysosomal pathway, but the mechanisms underlying this trafficking are unknown. Here, we investigated the effect of the lysosomal targeting receptor sortilin on NCC expression and degradation.

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