Evidence map›Paper›PMID 40621767›Full record

ArticleCurrent pediatric reviews2026

How not to Misdiagnose the Mild Forms of Mucopolysaccharidosis and Juvenile Idiopathic Arthritis.

Natalia V Buchinskaya, Nato D Vashakmadze, Natalia V Zhurkova, Lubov S Sorokina, Anastasia O Vechkasova, Liudmila K Mikhaylova, Leyla S Namazova-Baranova, Ekaterina Yu Zakharova, Valentina I Larionova, Dmitry O Ivanov and 1 more

Abstract read
PubMed Publisher
In one paragraph

Article in Current pediatric reviews, 2026. 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

11 authors.

Natalia V BuchinskayaSaint-Petersburg State Pediatric Medical University, Saint-Petersburg, Russian Federation, Russia.
Nato D VashakmadzeResearch Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery, Moscow, Russian Federation, Russia.
Natalia V ZhurkovaResearch Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery, Moscow, Russian Federation, Russia.
Lubov S SorokinaSaint-Petersburg State Pediatric Medical University, Saint-Petersburg, Russian Federation, Russia.
Anastasia O VechkasovaSaint-Petersburg State Pediatric Medical University, Saint-Petersburg, Russian Federation, Russia.
Liudmila K MikhaylovaResearch Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery, Moscow, Russian Federation, Russia.
Leyla S Namazova-BaranovaResearch Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery, Moscow, Russian Federation, Russia.
Ekaterina Yu ZakharovaResearch Centre for Medical Genetics n.a. N.P. Bochkov, Moscow, Russian Federation, Russia.
Valentina I LarionovaInstitute of Experimental Medicine, Saint Petersburg, Russian Federation, Russia.
Dmitry O IvanovSaint-Petersburg State Pediatric Medical University, Saint-Petersburg, Russian Federation, Russia.
Mikhail M KostikSaint-Petersburg State Pediatric Medical University, Saint-Petersburg, Russian Federation, Russia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimsThe similarity between mucopolysaccharidosis (MPS) patients and juvenile idiopathic arthritis (JIA) leads to ineffective and needless anti-rheumatic treatment and delayed initiation of enzyme-replacement therapy, the early start of which is crucial for diminishing the disease progression and yielding better outcomes.

backgroundThe prevalence of joint involvement in the attenuated forms of MPS leads to the JIA misdiagnosis, especially in patients without distinctive facial dysmorphic features.

objectiveOur study aimed to compare mild forms of MPS and JIA and create a diagnostic score helping to differentiate both conditions.

methods41 patients with mild forms of different types of MPS and 255 JIA patients with polyarthritis were included in the retrospective study. The routine clinical and laboratory features were used for the comparison analysis.

resultsThe main features of the MPS cohort were younger age at the disease onset, lower weight and height lower inflammation, and higher number of affected joints compared to JIA patients and involvement in the organs and system, specific for MPS. The majority of the patients had similar C-reactive protein levels. At least two extra-articular features with polyarticular involvement were the main discriminating factors for both conditions. The sum (>38) of the following criteria:ESR< 12 mm/h (38 points), growth delay (height ≤ -2.0 SD; 20 points), age of joint involvement < 1.0 years (24 points), male sex (15 points), and involvement of both elbows with limited range of motion (29 points) can help in the differentiation If a patient had no extra-articular features, typical for MPS. The specificity and sensitivity of this model are 91.0% and 92.7% respectively.

conclusionThis diagnostic algorithm might increase the suspicion of MPS and should be added to routine testing not miss the mild form of MPS inside JIA. Early diagnosis of mild cases allows for the initiation of treatment in patients with MPS at an earlier stage, which can significantly improve their daily functioning and quality of life.

Indexed as

Arthritis, JuvenileDiagnostic ErrorsMucopolysaccharidosesAdolescentChildChild, PreschoolDiagnosis, DifferentialFemaleHumansMaleRetrospective StudiesSeverity of Illness IndexArthropathydiagnostic criteriageneticsjuvenile idiopathic arthritislysosomal storage diseasesmucopolysaccharidosis

Identifiers

What OpenQuestion holds

Textmetadata
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.