Evidence map›Paper›PMID 35676033›Full record

ArticleInternal medicine (Tokyo, Japan)2023

Different Clinical Courses of Nephronophthisis in Dizygotic Twins.

Yutaro Oki, Ai Katsuma, Masahiro Okabe, Mao Watanabe, Makoto Sagasaki, Daisuke Takahashi, Ai Kimura, Junichiro Kato, Hiroyuki Ueda, Hiroshi Hataya and 6 more

Open access · diamondAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Internal medicine (Tokyo, Japan), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 40% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Article
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

16 authors at 3 institutions in 1 country.

Yutaro OkiDivision of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
Ai KatsumaDivision of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
Masahiro OkabeDivision of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
Mao WatanabeDivision of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
Makoto SagasakiDivision of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
Daisuke TakahashiDivision of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
Ai KimuraDivision of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
Junichiro KatoDivision of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
Hiroyuki UedaDivision of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
Hiroshi HatayaDepartment of Nephrology and Rheumatology, Tokyo Metropolitan Children's Medical Center, Japan.
Takuya FujimaruDepartment of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Japan.
Takayasu MoriDepartment of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Japan.
Eisei SoharaDepartment of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Japan.
Shinichi UchidaDepartment of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Japan.
Yoichi MiyazakiDivision of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
Takashi YokooDivision of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
Jikei University School of Medicine · JPTokyo Medical and Dental University · JPTokyo Metropolitan Children's Medical Center · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Siblings with nephronophthisis occasionally show different clinical courses; however, the reasons for this remain unclear. We herein report cases of nephronophthisis in a pair of dizygotic twins with different clinical courses. The brother developed end-stage kidney disease at 17 years old; however, his sister did not show kidney insufficiency. Kidney biopsies revealed severe tubulointerstitial damage at 14 and 22 years old in the brother and sister, respectively. Both had a homozygous NPHP1 deletion with different heterozygous mutations related to hereditary cystic kidney disease. Since the dizygotic twins were exposed to similar environmental factors, genetic factors may have influenced their clinical course more strongly than environmental factors.

Indexed as

Kidney Diseases, CysticPolycystic Kidney DiseasesAdaptor Proteins, Signal TransducingAdolescentAdultCytoskeletal ProteinsDisease ProgressionFemaleHumansMaleMembrane ProteinsTwins, DizygoticYoung AdultAdaptor Proteins, Signal TransducingCytoskeletal ProteinsMembrane Proteinschronic kidney diseasedizygotic twinsnephronophthisisNPHP1 gene mutation

Identifiers

PMID35676033
PMCPMC9876724
OpenAlexW4282925121

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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.