Evidence map›Paper›PMID 35761198›Full record

ArticleBMC nephrology2022

A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis.

Saisai Yang, Guanghui Yao, Xin Chen, Huirong Shi, Chihhong Lou, Shumin Ren, Zhihui Jiao, Cong Wang, Xiangdong Kong, Qinghua Wu

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC nephrology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.3field-weighted citation impact, top 48% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 2 institutions in 2 countries.

Saisai Yang *Department of Obstetrics and Gynecology, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.
Guanghui Yao *Department of Obstetrics and Gynecology, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.
Xin ChenDepartment of Obstetrics and Gynecology, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.
Huirong ShiDepartment of Obstetrics and Gynecology, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.
Chihhong LouGene Editing and Viral Vector Core, City of Hope Medical Center, Duarte, Los Angeles, CA, 91006, USA.
Shumin RenDepartment of Obstetrics and Gynecology, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.
Zhihui JiaoDepartment of Obstetrics and Gynecology, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.
Cong WangDepartment of Obstetrics and Gynecology, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.
Xiangdong KongDepartment of Obstetrics and Gynecology, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.
Qinghua WuDepartment of Obstetrics and Gynecology, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China. qh_wu77@163.com.
First Affiliated Hospital of Zhengzhou University · CNCity Of Hope National Medical Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Nephrolithiasis is not common in children, but the incidence is gradually increased in these years. Urinary tract malformations, urinary infection, dietary habits, geographic region and genetic factor are involved in the etiology of nephrolithiasis. For the affected child, it is especially important to elucidate the etiology, which may provide an accurate diagnosis, a personalized therapy and effective follow-up strategy. Here to seek the etiology of a ten-year-old boy incidentally found with nephrolithiasis, next generation sequencing (NGS) including a panel with 248 genes involved in hereditary kidney diseases was performed for the boy and identified two mutations of KCNJ1, c.89G > A (p.C30Y) and c.65G > T (p.R22M), and the later was a novel missense mutation originated from his father. The child was confirmed with type II Bartter syndrome (BS) caused by KCNJ1 mutations. Our study suggests that BS may be difficult to get diagnosed at an early stage based on clinical manifestations or biochemical laboratory tests, and NGS is an efficient way to determine the etiology and provide further treatment and guide fertility counseling for the affected family.

Indexed as

Bartter SyndromeKidney CalculiPotassium Channels, Inwardly RectifyingChildHigh-Throughput Nucleotide SequencingHumansMaleMutationKCNJ1 protein, humanPotassium Channels, Inwardly RectifyingBartter syndromeKCNJ1NephrolithiasisNext generation sequencing

Identifiers

PMID35761198
PMCPMC9235087
OpenAlexW4283697880

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.