Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21.

A Paripović, A Maver, N Stajić, J Putnik, S Ostojić, B Alimpić, N Ilić, A Sarajlija

Abstract readCase Reports

In one paragraph

Article in Balkan journal of medical genetics : BJMG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing papers in PubMed

–field-weighted citation impact

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

8 authors.

A ParipovićDepartment of Nephrology, Mother and Child Health Care Institute of Serbia "Dr Vukan Čupić", Belgrade, Serbia.

A MaverClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.

N StajićDepartment of Nephrology, Mother and Child Health Care Institute of Serbia "Dr Vukan Čupić", Belgrade, Serbia.

J PutnikDepartment of Nephrology, Mother and Child Health Care Institute of Serbia "Dr Vukan Čupić", Belgrade, Serbia.

S OstojićDepartment of Neurology, Mother and Child Health Care Institute of Serbia "Dr Vukan Čupić", Belgrade, Serbia.

B AlimpićDay Care Hospital, Mother and Child Health Care Institute of Serbia "Dr Vukan Čupić", Belgrade, Serbia.

N IlićClinical Genetics Outpatient Clinic, Mother and Child Health Care Institute of Serbia "Dr Vukan Čupić", Belgrade, Serbia.

A SarajlijaClinical Genetics Outpatient Clinic, Mother and Child Health Care Institute of Serbia "Dr Vukan Čupić", Belgrade, Serbia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Pathogenic variants in Case report: We report on the first COXPD21 patient with generalized tubular dysfunction and early childhood progression to chronic kidney disease (CKD). Thorough diagnostic evaluation was initiated at six months of age due to failure to thrive, muscular hypotonia, motor delay and recurrent bronchiolitis. The boy was lost to follow-up until the age of two years, when he was readmitted with elevated creatinine level, reduced estimated glomerular filtrate rate, normochromic anaemia, metabolic acidosis and hyperkalaemia. Urine abnormalities pointed to generalized tubular dysfunction. Two novel heterozygous missense variants in Conclusion: The overall clinical course in the patient we report on corresponds well to the previously reported cases of

Indexed as

Mitochondrial diseaseTARS2 genetubulopathy

Identifiers

PMID38482264

DOI10.2478/bjmg-2023-0016

PMCPMC10932596

What OpenQuestion holds

Textmetadata

LicenceCC BY-NC-ND

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Registered trials

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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.