Primary ciliary dyskinesia in children. Role of electron microscopy in countries with medium economic resources
Primary ciliary dyskinesia (PCD) is a rare genetic disease that produces functional and structural de fects in the cilia. In Peru, no cases of this disease have been reported in the pediatric population.
OBJECTIVE: To describe the clinical, radiological and ciliary ultrastructure characteristics in children with PCD, in a country with medium economic resources.
CLINICAL CASE: We report 5 patients with PCD treated at the Instituto Nacional de Salud del Niño-Breña (Peru). Age range 1 to 5 years (median 3 years). Three patients were male. The most frequent clinical manifestations were chronic wet cough, rhonchi, coarse crackles, recurrent bronchial obstructive syndrome, and recurrent pneumonia. All patients had atelectasis, three had bronchiectasis, and two had dextrocardia with situs inversus. Two patients had undergone lobectomy. Other causes of recurrent pneumonias were ruled out with im munodeficiency study, chlorine test and pulmonary aspiration The electron microscopy showed ab sence of the inner arm of dynein as the most frequent pattern. All patients received treatment with antibiotics, nebulization with hypertonic saline, and respiratory physiotherapy with good adherence.
CONCLUSION: In medium incomes countries, electron microscopy associated with clinical and radio logical characteristics plays an important role in the early diagnosis of this disease. This is the first Peruvian report that contributes to the casuistry and epidemiology of this rare pathology.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2022 |
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| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:93 |
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| Enthalten in: |
Andes pediatrica : revista Chilena de pediatria - 93(2022), 5 vom: 31. Okt., Seite 718-726 |
| Sprache: |
Spanisch |
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| Weiterer Titel: |
Discinesia ciliar primaria en niños. Rol de la microscopia electrónica en países de medianos recursos económicos |
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| Beteiligte Personen: |
Nuñez-Paucar, Héctor [VerfasserIn] |
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| Anmerkungen: |
Date Completed 02.11.2023 Date Revised 02.11.2023 published: Print Citation Status MEDLINE |
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| doi: |
10.32641/andespediatr.v93i5.3824 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM363988262 |
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| 245 | 1 | 0 | |a Primary ciliary dyskinesia in children. Role of electron microscopy in countries with medium economic resources |
| 246 | 3 | 3 | |a Discinesia ciliar primaria en niños. Rol de la microscopia electrónica en países de medianos recursos económicos |
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| 500 | |a Date Completed 02.11.2023 | ||
| 500 | |a Date Revised 02.11.2023 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Primary ciliary dyskinesia (PCD) is a rare genetic disease that produces functional and structural de fects in the cilia. In Peru, no cases of this disease have been reported in the pediatric population | ||
| 520 | |a OBJECTIVE: To describe the clinical, radiological and ciliary ultrastructure characteristics in children with PCD, in a country with medium economic resources | ||
| 520 | |a CLINICAL CASE: We report 5 patients with PCD treated at the Instituto Nacional de Salud del Niño-Breña (Peru). Age range 1 to 5 years (median 3 years). Three patients were male. The most frequent clinical manifestations were chronic wet cough, rhonchi, coarse crackles, recurrent bronchial obstructive syndrome, and recurrent pneumonia. All patients had atelectasis, three had bronchiectasis, and two had dextrocardia with situs inversus. Two patients had undergone lobectomy. Other causes of recurrent pneumonias were ruled out with im munodeficiency study, chlorine test and pulmonary aspiration The electron microscopy showed ab sence of the inner arm of dynein as the most frequent pattern. All patients received treatment with antibiotics, nebulization with hypertonic saline, and respiratory physiotherapy with good adherence | ||
| 520 | |a CONCLUSION: In medium incomes countries, electron microscopy associated with clinical and radio logical characteristics plays an important role in the early diagnosis of this disease. This is the first Peruvian report that contributes to the casuistry and epidemiology of this rare pathology | ||
| 650 | 4 | |a English Abstract | |
| 650 | 4 | |a Journal Article | |
| 700 | 1 | |a Valera-Moreno, Carlos |e verfasserin |4 aut | |
| 700 | 1 | |a Zamudio-Aquise, Mariela Katherine |e verfasserin |4 aut | |
| 700 | 1 | |a Untiveros-Tello, Alex |e verfasserin |4 aut | |
| 700 | 1 | |a Torres-Salas, Juan Carlos |e verfasserin |4 aut | |
| 700 | 1 | |a Lipa-Chancolla, Roxana |e verfasserin |4 aut | |
| 700 | 1 | |a Fuentes-Torres, Julia |e verfasserin |4 aut | |
| 700 | 1 | |a Atamari-Anahui, Noé |e verfasserin |4 aut | |
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