Evidence map›Paper›PMID 39034346›Full record

ArticleHormones (Athens, Greece)2024

A toddler with severe vitamin D-dependent rickets type 1 A (VDDR1A), hungry bone syndrome, and severe RSV infection: presentation and therapeutic challenges.

Eleni Statha, George Paltoglou, Artemis Doulgeraki, Eleni Vakali, Elpis Vlachopapadopoulou, Stavroula Economou, Irini-Ikbale Sakou, Alexandra Soldatou, Kyriaki Karavanaki, Elena Fryssira

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Article in Hormones (Athens, Greece), 2024. 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
–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

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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

1 citing paper in PubMed.

  1. Review
4 · The record

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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

10 authors.

Eleni Statha2nd Department of Pediatrics, National and Kapodistrian University of Athens (NKUA), "P. & A. Kyriakou" Children's Hospital, Athens, Greece.
George Paltoglou2nd Department of Pediatrics, National and Kapodistrian University of Athens (NKUA), "P. & A. Kyriakou" Children's Hospital, Athens, Greece.
Artemis DoulgerakiDepartment of Bone and Mineral Metabolism, Institute of Child Health, Athens, Greece.
Eleni VakaliDepartment of Endocrinology-Growth and Development, P. & A. Kyriakou Children's Hospital, Athens, Greece.
Elpis VlachopapadopoulouDepartment of Endocrinology-Growth and Development, P. & A. Kyriakou Children's Hospital, Athens, Greece. elpis.vl@gmail.com.ORCID http://orcid.org/0000-0001-5641-7081
Stavroula Economou2nd Department of Pediatrics, National and Kapodistrian University of Athens (NKUA), "P. & A. Kyriakou" Children's Hospital, Athens, Greece.
Irini-Ikbale Sakou2nd Department of Pediatrics, National and Kapodistrian University of Athens (NKUA), "P. & A. Kyriakou" Children's Hospital, Athens, Greece.
Alexandra Soldatou2nd Department of Pediatrics, National and Kapodistrian University of Athens (NKUA), "P. & A. Kyriakou" Children's Hospital, Athens, Greece.
Kyriaki Karavanaki2nd Department of Pediatrics, National and Kapodistrian University of Athens (NKUA), "P. & A. Kyriakou" Children's Hospital, Athens, Greece.
Elena FryssiraMedical Genetics Laboratory, National and Kapodistrian University of Athens (NKUA), Aghia Sophia Children's Hospital, Athens, Greece.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundVitamin D-dependent rickets type 1 A (VDDR1A) is an autosomal recessive disorder due to mutations in the CYP27B1 gene which result in inability to generate 1,25(OH) CASE PRESENTATION: An 18-month-old boy with VDDR1A presented with hypotonia and respiratory distress. He had been diagnosed 2 months earlier, having been evaluated for stunted growth, hypotonia, and delayed developmental milestones. He was stabilized with oxygen and bronchodilators for his bronchiolitis and high doses of alfacalcidol, calcium, and phosphate supplements for his hungry bone syndrome. Of note, the patient sustained upper limb fractures after a fall from his bed during admission. Overall, he had a protracted disease course; however, his bone profile gradually improved and he steadily recovered.

conclusionVDDR1A causes failure to thrive, hypotonia, and increased fracture risk and may complicate the clinical course of lower respiratory tract infections. Furthermore, management of hungry bone syndrome requires supraphysiologic doses of vitamin D metabolites and calcium.

Indexed as

Familial Hypophosphatemic RicketsMuscle HypotoniaRespiratory Syncytial Virus InfectionsHumansHydroxycholecalciferolsInfantMalealfacalcidolHydroxycholecalciferolsAlphacalcidolHypocalcemiaRicketsRSV

Identifiers

PMID39034346

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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.