Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0231835 (
tachypnea
)
2,543
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Background:
Pulmonary alveolar proteinosis (PAP) is a rare diffuse lung disease. Reports of rare cases of PAP due to
Pneumocystis jirovecii
(
P. jirovecii
) exist in infants with immunodeficiency diseases, but no cases have been reported to date in pediatric patients with type 1 hyper-IgM syndrome (HIGM1).
Case Presentation:
Herein, we present a case of PAP secondary to
P. jirovecii
on an infant with HIGM1. He was admitted to our unit because of cough and
tachypnea
. Lung biopsy confirmed the diagnosis of PAP, whereas hexamine-silver staining of the bronchoalveolar lavage fluid identified
P. jirovecii
infection. No other probable cause of PAP was observed. Whole exome sequencing indicated a novel c.511dupA (p.I171N
*
30) hemizygous mutation in the
CD40 ligand
(
CD40LG
) gene. He was cured with bronchoalveolar lavage and compound sulfamethoxazole tablets.
Conclusions:
To our knowledge, this is the first reported case of
P. jirovecii
infection as a reversible cause of PAP in an infant with HIGM1.
...
PMID:Pulmonary Alveolar Proteinosis Due to
Pneumocystis carinii
in Type 1 Hyper-IgM Syndrome: A Case Report. 3259 90
An approximately 1-year-old male intact Shih Tzu dog was referred to a tertiary facility with a history of progressive
tachypnea
, increased respiratory effort, and weight loss over a 3-month period that failed to improve with empirical antimicrobial treatment. Upon completion of a comprehensive respiratory evaluation, the dog was diagnosed with severe Pneumocystis pneumonia and secondary pulmonary hypertension. Clinical signs resolved and disease resolution was confirmed after completion of an 8-week course of trimethoprim-sulfonamide, 4-week tapering dose of prednisone to decrease an inflammatory response secondary to acute die-off of organisms, a 2-week course of clopidogrel to prevent clot formation, and a 2-week course of a phosphodiesterase-5 inhibitor to treat pulmonary hypertension. Immunodiagnostic testing and genetic sequencing were performed to evaluate for potential immunodeficiency as an underlying cause for the development Pneumocystis pneumonia, and identified an X-linked
CD40 ligand
deficiency.
...
PMID:X-linked CD40 ligand deficiency in a 1-year-old male Shih Tzu with secondary Pneumocystis pneumonia. 3327 22
