ArticleLancet regional health. Americas2022
Hypophosphatemic Rickets in Colombia: A Prevalence-Estimation Model in Rare Diseases. 2018.
Article in Lancet regional health. Americas, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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.
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.
Who cites it
4 citing papers in PubMed.
- A bibliometric approach to worldwide scientific production of familial hypophosphataemic rickets in Scopus (2000-2022).Orphanet journal of rare diseases · 2025Article
- Latin-American consensus on the transition into adult life of patients with X-linked hypophosphatemia.Endocrine · 2024Article
- The utilisation of primary health care system concepts positively impacts the assistance of patients with rare diseases despite limited knowledge and experience by health care professionals: A qualitative synopsis of the evidence including approximately 78 000 individuals.Journal of global health · 2023Review
- Precision information extraction for rare disease epidemiology at scale.Journal of translational medicine · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Hypophosphatemic rickets is a rare, genetic syndrome with multisystem involvement. It causes skeletal abnormalities, painful enthesopathies, increased risk of fracture, and short stature; leading to a substantial burden of disease, disability, and worsening of quality of life. To improve health conditions of people living with this disease, it is essential to know its prevalence which is currently unknown in Colombia. This study aimed to estimate the prevalence of hypophosphatemic rickets in Colombia by using a mathematical model and national statistic records. Methods: We executed a model to estimate probabilities of transitions between health, disease, and death states (Markov chains). The model was fed with international prevalences taken from original studies (systematic review) and administrative records' data from SISPRO (a national health information system) using the International Classification of Diseases (ICD-10) E833 code, vital statistics, and census data. World Health Organization's (WHO) DISMOD II software was used to develop the model. Findings: The estimated overall prevalence of hypophosphatemic rickets in Colombia in 2018 was 2·03 cases per 100 000 people (981 affected people), with a sensitive range of 1·97 to 2·09. The estimated prevalence by sex was 2·61 (645 people) and 1·43 (336 people) cases per 100 000 women and men, respectively. Interpretation: Our overall estimated prevalence shows consistency with original international data. This is the first prevalence estimation of hypophosphatemic rickets in Colombia and will be relevant to support public health decisions for rare diseases and to provide a pre-test probability framework in clinical practice. DISMOD II and the model are useful tools to estimate the prevalence of rare and orphan diseases, when probabilistic studies cannot be carried out. There are limited bibliographic resources worldwide reporting prevalence values supported by original studies. Our study can be used as a cost-effective methodology reference in this regard, especially for Latin America. Funding: Ultragenyx Pharmaceutical, as a donation.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.