Evidence map›Paper›PMID 33349102›Full record

ArticleRenal failure2021

Clinical profile of a Polish cohort of children and young adults with cystinuria.

Marcin Tkaczyk, Katarzyna Gadomska-Prokop, Iga Załuska-Leśniewska, Kinga Musiał, Jan Zawadzki, Katarzyna Jobs, Tadeusz Porowski, Anna Rogowska-Kalisz, Anna Jander, Meritrafat Kirolos and 7 more

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

Article in Renal failure, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 37% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. 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

17 authors at 10 institutions in 2 countries.

Marcin TkaczykDepartment of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Łódź, Poland.
Katarzyna Gadomska-ProkopDepartment of Nephrology, Transplantation and Hypertension, Children's Memorial Health Institute, Warsaw, Poland.
Iga Załuska-LeśniewskaDepartment of Pediatric Nephrology and Hypertension, Medical University of Gdańsk, Gdańsk, Poland.
Kinga MusiałDepartment of Pediatric Nephrology, Medical University of Wrocław, Wrocław, Poland.
Jan ZawadzkiDepartment of Nephrology, Transplantation and Hypertension, Children's Memorial Health Institute, Warsaw, Poland.
Katarzyna JobsDepartment of Pediatrics, Allergology and Nephrology, Military Medical Institute, Warsaw, Poland.
Tadeusz PorowskiDepartment of Pediatrics and Nephrology, Medical University of Białystok, Białystok, Poland.
Anna Rogowska-KaliszDepartment of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Łódź, Poland.
Anna JanderDepartment of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Łódź, Poland.
Meritrafat KirolosDepartment of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Łódź, Poland.
Adam HalińskiDepartment of Clinical Genetics and Pathology, University of Zielona Góra, Zielona Góra, Poland.
Aleksandra KrzemieńDepartment of Pediatric Nephrology, Upper-Silesian Centre for Child's Health, Katowice, Poland.
Agnieszka Sobieszczańska-DroździelDepartment of Pediatric Nephrology, Medical University of Lublin, Lublin, Poland.
Katarzyna ZachwiejaDepartment of Pediatric Nephrology, Collegium Medicum Jagiellonian University, Krakow, Poland.
Bodo B BeckInstitute of Human Genetics and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
Przemysław SikoraDepartment of Pediatric Nephrology, Medical University of Lublin, Lublin, Poland.
Marcin ZaniewDepartment of Pediatrics, University of Zielona Góra, Zielona Góra, Poland.
Polish Mother’s Memorial Hospital Research Institute · PLChildren's Memorial Health Institute · PLMedical University of Lublin · PLUniversity of Zielona Góra · PLGdańsk Medical University · PLJagiellonian University · PLMedical University of Białystok · PLUniversity of Cologne · DEUniversity of Wrocław · PLWojskowy Instytut Medycyny Lotniczej · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCystinuria is an inherited disorder that results in increased excretion of cystine in the urine. It accounts for about 1-2% of pediatric kidney stones. In this study, we sought to identify the clinical characteristics of patients with cystinuria in a national cohort.

methodsThis was a retrospective study involving 30 patients from the Polish Registry of Inherited Tubulopathies. Initial data and that from a 6-month follow-up were analyzed. Mutational analysis was performed by targeted Sanger sequencing and, if applicable, MLPA analysis was used to detect large rearrangements.

results

conclusionsThe clinical course of cystinuria is similar among patients, regardless of the type of genetic mutation. Most patients require surgery before diagnosis or soon after it. Patients require combined urological and pharmacological treatment for prevention of stone recurrence and renal function preservation.

Indexed as

AdolescentAmino Acid Transport Systems, BasicAmino Acid Transport Systems, NeutralChildChild, PreschoolCystinuriaDNA Mutational AnalysisFemaleHumansInfantKidney CalculiMaleMutationPolandRetrospective StudiesYoung AdultAmino Acid Transport Systems, BasicAmino Acid Transport Systems, NeutralSLC3A1 protein, humanSLC7A9 protein, humanChildrenclinical profilecystinuriatreatmenturolithiasis

Identifiers

PMID33349102
PMCPMC7758038
OpenAlexW3117509310

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.