Sinusitis, otitis media and diffuse bronchiectasis in both lungs
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive or X-linked biallelic mutations inherited disease, characterized by motile cilia dysfunction. Typical manifestations include bronchiectasis, secretory otitis media, sinusitis, situs inversus, and infertility. PCD often needs to be differentiated from cystic fibrosis (CF) because of similar clinical manifestations. In this paper, a juvenile female who presented with recurrent cough and expectoration with fever since early childhood, had a history of secretory otitis media and sinusitis, and had been considered for the diagnosis of CF. After the discovery of compound heterozygous mutations in PCD related pathogenic genes by gene sequencing, combined with the clinical manifestations and imaging characteristics, PCD was finally diagnosed.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2022 |
|---|---|
| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:45 |
|---|---|
| Enthalten in: |
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases - 45(2022), 11 vom: 12. Nov., Seite 1117-1120 |
| Sprache: |
Chinesisch |
|---|
| Beteiligte Personen: |
Zhou, W J [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
|---|
| Anmerkungen: |
Date Completed 09.11.2022 Date Revised 09.11.2022 published: Print Citation Status MEDLINE |
|---|
| doi: |
10.3760/cma.j.cn112147-20220518-00424 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM348580169 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM348580169 | ||
| 003 | DE-627 | ||
| 005 | 20231226040604.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2022 xx |||||o 00| ||chi c | ||
| 024 | 7 | |a 10.3760/cma.j.cn112147-20220518-00424 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1161.xml |
| 035 | |a (DE-627)NLM348580169 | ||
| 035 | |a (NLM)36344229 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a chi | ||
| 100 | 1 | |a Zhou, W J |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Sinusitis, otitis media and diffuse bronchiectasis in both lungs |
| 264 | 1 | |c 2022 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 09.11.2022 | ||
| 500 | |a Date Revised 09.11.2022 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Primary ciliary dyskinesia (PCD) is a rare autosomal recessive or X-linked biallelic mutations inherited disease, characterized by motile cilia dysfunction. Typical manifestations include bronchiectasis, secretory otitis media, sinusitis, situs inversus, and infertility. PCD often needs to be differentiated from cystic fibrosis (CF) because of similar clinical manifestations. In this paper, a juvenile female who presented with recurrent cough and expectoration with fever since early childhood, had a history of secretory otitis media and sinusitis, and had been considered for the diagnosis of CF. After the discovery of compound heterozygous mutations in PCD related pathogenic genes by gene sequencing, combined with the clinical manifestations and imaging characteristics, PCD was finally diagnosed | ||
| 650 | 4 | |a English Abstract | |
| 650 | 4 | |a Journal Article | |
| 700 | 1 | |a Zhao, X Y |e verfasserin |4 aut | |
| 700 | 1 | |a Liu, Y P |e verfasserin |4 aut | |
| 700 | 1 | |a Zheng, S Y |e verfasserin |4 aut | |
| 700 | 1 | |a Xu, K F |e verfasserin |4 aut | |
| 700 | 1 | |a Tian, X L |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases |d 1989 |g 45(2022), 11 vom: 12. Nov., Seite 1117-1120 |w (DE-627)NLM012624357 |x 1001-0939 |7 nnns |
| 773 | 1 | 8 | |g volume:45 |g year:2022 |g number:11 |g day:12 |g month:11 |g pages:1117-1120 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.3760/cma.j.cn112147-20220518-00424 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 45 |j 2022 |e 11 |b 12 |c 11 |h 1117-1120 | ||