Brazilian Survey of Primary Ciliary Dyskinesia Centers
Center characteristics, patient volume, and access to diagnostic methods
National PCD Center Survey
September 09, 2026
1 Executive summary
This report describes a national survey of Brazilian services caring for people with primary ciliary dyskinesia (PCD). Results are self-reported and summarize service-level patient volume and access to diagnostic methods. They should not be interpreted as population prevalence estimates.
The current file contains 25 submissions. Two submissions from Hospital Universitário - UFJF were combined according to the consolidation rule described in the Methods section, resulting in 24 reporting units across 13 states.
The five reporting units with the largest patient volumes account for 51.0% of all confirmed plus clinically suspected patients reported. This concentration describes the responding network, not the national distribution of all patients with PCD.
2 Methods
2.1 Design and analysis unit
This is a cross-sectional descriptive analysis of a center survey. The unit of analysis is the reporting service or a prespecified consolidated center. Patient counts represent people reported to be in active follow-up at the time of each response.
The survey definitions were retained:
- Confirmed PCD: biallelic pathogenic or likely pathogenic variants in a PCD-associated gene and/or a classic ultrastructural defect on electron microscopy.
- Clinical suspicion: a suggestive clinical history without confirmation by genetics or electron microscopy.
No inferential tests were performed. Counts, percentages, medians, and interquartile ranges are presented. Percentages for diagnostic availability use all reporting units as the denominator and preserve missing responses as Not reported.
2.2 Data processing rules
Column selection uses normalized survey-question text rather than column positions. This prevents auxiliary form fields from being mistaken for analytical variables when the form schema changes.
Two submissions from Hospital Universitário - UFJF were consolidated into one reporting unit. Patient counts were summed, respondent names were retained, and the highest reported access level for each diagnostic method was used in this order: on-site, partnered service, being implemented, not available, and not reported. Because patient overlap cannot be assessed from the spreadsheet, the combined UFJF count should be confirmed before publication.
The response recorded as Hospital Universitário Professor Edgard Santos with location “Bahia” was assigned to Salvador, BA. This is an explicit location correction used only for geographic summaries.
The report intentionally ignores auxiliary columns that are not among the 16 analytical survey fields. Their presence is documented in the data-quality section but their contents are not analyzed.
3 Patient volume
Confirmed and clinically suspected PCD patients reported by each center or reporting service.
| Center | Location | Confirmed | Suspected | Total |
|---|---|---|---|---|
| UNICAMP Pediatrics | Campinas/SP | 25 | 60 | 85 |
| InCor-USP | São Paulo/SP | 50 | 30 | 80 |
| Hospital de Messejana - Dr Carlis Alberto Studart Gomes | Fortaleza/CE | 0 | 62 | 62 |
| Instituto da Criança e do Adolescente HCFMUSP Pediatrics | São Paulo/SP | 25 | 25 | 50 |
| Hospital São Lucas-PUCRS | Porto Alegre/RS | 7 | 40 | 47 |
| Hospital do Pulmão | Blumenau/SC | 0 | 40 | 40 |
| Instituto Nacional da Saúde da Mulher, Criança e Adolescente Fernandes Figueira - IFF-FIOCRUZ Pediatrics | Rio de Janeiro/RJ | 17 | 18 | 35 |
| Universidade do Estado do Rio de Janeiro | Rio de Janeiro/RJ | 8 | 17 | 25 |
| Hospital Universitário Professor Edgard Santos | Salvador/BA | 10 | 14 | 24 |
| Hospital de Clínicas-UFRGS | Porto Alegre/RS | 4 | 20 | 24 |
| Hospital Infantil Albert Sabin Pediatrics | Fortaleza/CE | 2 | 18 | 20 |
| Hospital Infantil João Paulo II Pediatrics | Belo Horizonte/MG | 8 | 10 | 18 |
| Hospital Universitario Onofre Lopes-UFRN | Natal/RN | 10 | 7 | 17 |
| Hospital de Clínicas-UFG | Goiânia/GO | 9 | 7 | 16 |
| Hospital Estadual Infantil Nossa Senhora da Glória Pediatrics | Vitória/ES | 5 | 11 | 16 |
| Hospital de Clínicas-UFPR Pediatrics | Curitiba/PR | 7 | 7 | 14 |
| IMIP - Instituto de Medicina Integral Professor Fernando Figueira | Recife/PE | 10 | 0 | 10 |
| Hospital da Criança de Brasilia José Alencar Pediatrics | Brasília/DF | 9 | 0 | 9 |
| Hospital de Clínicas-UFRGS Pediatrics | Porto Alegre/RS | 3 | 6 | 9 |
| UNICAMP | Campinas/SP | 8 | 0 | 8 |
| Hospital Universitário - UFJF | Juiz de Fora/MG | 5 | 3 | 8 |
| Hospital Santa Casa de Misericórdia de Vitória | Vitória/ES | 1 | 7 | 8 |
| Hospital das Clinicas-UFMG Pediatrics | Belo Horizonte/MG | 2 | 5 | 7 |
| Hospital da Criança Santo Antonio Pediatrics | Porto Alegre/RS | 2 | 1 | 3 |
4 Geographic distribution
Reported patient volume by state. Totals reflect participating centers only.
| State | Reporting units | Confirmed | Suspected | Total |
|---|---|---|---|---|
| SP | 4 | 108 | 115 | 223 |
| RS | 4 | 16 | 67 | 83 |
| CE | 2 | 2 | 80 | 82 |
| RJ | 2 | 25 | 35 | 60 |
| SC | 1 | 0 | 40 | 40 |
| MG | 3 | 15 | 18 | 33 |
| BA | 1 | 10 | 14 | 24 |
| ES | 2 | 6 | 18 | 24 |
| RN | 1 | 10 | 7 | 17 |
| GO | 1 | 9 | 7 | 16 |
| PR | 1 | 7 | 7 | 14 |
| PE | 1 | 10 | 0 | 10 |
| DF | 1 | 9 | 0 | 9 |
5 Diagnostic capacity
5.1 Availability by method
Reported availability of diagnostic methods across participating reporting units.
| Method | On-site | Partnered | Implementing | Not available |
|---|---|---|---|---|
| Electron microscopy | 2 (8.3%) | 5 (20.8%) | 1 (4.2%) | 16 (66.7%) |
| Genetics | 5 (20.8%) | 11 (45.8%) | 2 (8.3%) | 6 (25.0%) |
| Immunofluorescence | 1 (4.2%) | 7 (29.2%) | 0 (0.0%) | 16 (66.7%) |
| Nasal NO | 3 (12.5%) | 4 (16.7%) | 2 (8.3%) | 15 (62.5%) |
| Sweat test | 15 (62.5%) | 7 (29.2%) | 1 (4.2%) | 1 (4.2%) |
| Videomicroscopy | 1 (4.2%) | 3 (12.5%) | 0 (0.0%) | 20 (83.3%) |
Table cells show the number and percentage of reporting units, n (%).
5.2 Availability by center
Availability of each diagnostic method by reporting unit.
6 Planned implementation
The table summarizes methods that respondents reported planning to implement within the next two years. Percentages use all reporting units as the denominator; a center may select more than one method.
| Method | Centers | Percent |
|---|---|---|
| Genetics | 11 | 45.8% |
| Nasal NO | 10 | 41.7% |
| Immunofluorescence | 4 | 16.7% |
| Electron microscopy | 3 | 12.5% |
| Videomicroscopy | 1 | 4.2% |
7 Nasal brushing for immunofluorescence
| Response | Centers | Percent |
|---|---|---|
| Yes | 24 | 100.0% |
8 Data quality and interpretation
| Check | Result |
|---|---|
| Raw survey submissions | 25 |
| Reporting units after the prespecified consolidation | 24 |
| Rows missing a confirmed count | 0 |
| Rows missing a suspected count | 0 |
| Reporting units missing city or state | 0 |
| Auxiliary columns excluded from analysis | 6 |
The current workbook contains 22 columns. The analysis uses the 16 survey fields listed in the Methods section and excludes 6 auxiliary columns. Exclusion is based on field meaning, not column number.
The following limitations should accompany any external use of these results:
- Participation was not a census of every Brazilian PCD service, so geographic gaps may reflect nonparticipation as well as true absence of care.
- Patient counts are self-reported and may be approximate. The spreadsheet does not provide patient-level identifiers, so overlap between centers cannot be evaluated.
- Diagnostic availability reflects respondent reports at different submission dates and may change over time.
- The consolidation of the two UFJF submissions assumes that their patient counts do not overlap. This requires confirmation before publication.
- Percentages describe participating reporting units and should not be generalized to all Brazilian centers without an appropriate sampling framework.
9 Participating centers
| Center | Responsible professional(s) | Location | Age group served |
|---|---|---|---|
| Hospital Universitário Professor Edgard Santos | Edna Lúcia Santos de Souza | Salvador/BA | Children and adolescents |
| Hospital Infantil Albert Sabin Pediatrics | Ângela Elizabeth Holanda Araújo Freitas | Fortaleza/CE | Children and adolescents |
| Hospital de Messejana - Dr Carlis Alberto Studart Gomes | Mara Rúbia Fernandes de Figueiredo | Fortaleza/CE | Adults |
| Hospital da Criança de Brasilia José Alencar Pediatrics | Luciana Monte | Brasília/DF | Children and adolescents |
| Hospital Estadual Infantil Nossa Senhora da Glória Pediatrics | Nyella Miossi Pinto | Vitória/ES | Children and adolescents |
| Hospital Santa Casa de Misericórdia de Vitória | Faradiba Sarquis Serpa | Vitória/ES | Adults |
| Hospital de Clínicas-UFG | Lusmaia Damaceno Camargo Costa | Goiânia/GO | All ages |
| Hospital Infantil João Paulo II Pediatrics | Chalene Guimarães soares Mezêncio | Belo Horizonte/MG | Children and adolescents |
| Hospital das Clinicas-UFMG Pediatrics | Claudia Ribeiro de Andrade | Belo Horizonte/MG | Children and adolescents |
| Hospital Universitário - UFJF | Marta Cristina Duarte; Célio de Barros Barbosa | Juiz de Fora/MG | All ages |
| IMIP - Instituto de Medicina Integral Professor Fernando Figueira | Patrícia Gomes de Matos Bezerra | Recife/PE | All ages |
| Hospital de Clínicas-UFPR Pediatrics | Kharine Yukari Fujii e Débora Chong | Curitiba/PR | Children and adolescents |
| Instituto Nacional da Saúde da Mulher, Criança e Adolescente Fernandes Figueira - IFF-FIOCRUZ Pediatrics | Patrícia Fernandes Barreto Machado Costa | Rio de Janeiro/RJ | Children and adolescents |
| Universidade do Estado do Rio de Janeiro | Raphael Freitas Jaber de Oliveira | Rio de Janeiro/RJ | Adults |
| Hospital Universitario Onofre Lopes-UFRN | Vera Maria Dantas | Natal/RN | All ages |
| Hospital São Lucas-PUCRS | Marcus H. Jones e Jordana H. Hammes | Porto Alegre/RS | All ages |
| Hospital da Criança Santo Antonio Pediatrics | Gilberto Bueno Fischer | Porto Alegre/RS | Children and adolescents |
| Hospital de Clínicas-UFRGS | Paulo de Tarso Roth Dalcin | Porto Alegre/RS | Adults |
| Hospital de Clínicas-UFRGS Pediatrics | Valentina C. B. Gava Chakr | Porto Alegre/RS | Children and adolescents |
| Hospital do Pulmão | Marina Andrade Lima | Blumenau/SC | All ages |
| UNICAMP | Eulalia Sakano | Campinas/SP | Adults |
| UNICAMP Pediatrics | José Dirceu Ribeiro | Campinas/SP | Children and adolescents |
| InCor-USP | Rodrigo Athanazio e Samia Rached | São Paulo/SP | Adults |
| Instituto da Criança e do Adolescente HCFMUSP Pediatrics | Luiz Vicente Ribeiro F da Silva-Filho | São Paulo/SP | Children and adolescents |
10 Reproducibility information
The report was generated from pcd_centers.xlsx, last modified on 2026-09-09 16:16 -03. The most recent survey submission in the file is dated 2026-09-09.
| Software | Version |
|---|---|
| R | 4.6.1 |
| rmarkdown | 2.32 |
| knitr | 1.51 |
| tidyverse | 2.0.0 |
| readxl | 1.5.0 |