Evidence map›Paper›PMID 42779591›Full record

ArticleChildhood kidney diseases2026

Early genetic diagnosis of cystinosis before corneal crystal deposition: two case reports from South India.

Lubna K P, Rehna K Rahman, Preetha Remesh, Manjula Anand, Nirmal Jayadevan, Divya Pachat

Abstract readCase Reports
In one paragraph

Article in Childhood kidney diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

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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

6 authors.

Lubna K PDepartment of Pediatrics, Aster Malabar Institute of Medical Sciences (Aster MIMS), Calicut, India.ORCID 0009-0004-8914-9262
Rehna K RahmanDepartment of Pediatrics, Aster Malabar Institute of Medical Sciences (Aster MIMS), Calicut, India.ORCID 0000-0002-9430-646X
Preetha RemeshDepartment of Pediatrics, Aster Malabar Institute of Medical Sciences (Aster MIMS), Calicut, India.ORCID 0009-0006-1277-542X
Manjula AnandDepartment of Pediatrics, Aster Malabar Institute of Medical Sciences (Aster MIMS), Calicut, India.ORCID 0009-0000-0592-3179
Nirmal JayadevanDepartment of Ophthalmology, Aster Malabar Institute of Medical Sciences (Aster MIMS), Calicut, India.ORCID 0009-0002-3193-6146
Divya PachatDepartment of Medical Genetics, Aster Malabar Institute of Medical Sciences (Aster MIMS), Calicut, India.ORCID 0000-0002-0059-3294

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cystinosis is a rare autosomal recessive lysosomal storage disorder with an incidence of approximately 1 in 100,000 to 200,000 live births. It is the most common cause of inherited pediatric Fanconi syndrome (FS). Here, we describe the cases of two infants from unrelated families who presented with polyuria and features of proximal renal tubular dysfunction. Although no corneal cystine deposition was observed at presentation, clinical suspicion and genetic analysis confirmed the diagnosis of nephropathic cystinosis. Both patients carried the same pathogenic variant in the

Indexed as

Case reportsCysteamineCystinosisFanconi syndrome

Identifiers

PMID42779591
PMCPMC13587223

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