background participants

Participant 151


On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

 

Male, age 15 with plastic bronchitis, recurrent pneumonia and ear infections (otitis media)

Date of Report

Oct 25, 2019

Description

The participant first had an episode of pneumonia at 6 months old. Over time, his episodes became more severe and by 6 years old he began coughing up thick, mucus molds of the inner lining of his bronchial tubes (bronchial casts). Evaluations showed extensive airway damage thought to be due to chronic difficulty breathing (aspiration). A lung biopsy revealed features of plastic bronchitis. A recent scan also found that there was abnormal lymphatic drainage within the thorax.

The participant has recurrent ear infections (otitis media), which occur about 4-5 times a year. Over time he also developed low lymphocyte levels (lymphopenia).

Symptoms / Signs
  • Recurrent pneumonia
  • Recurrent ear infections (otitis media)
  • Delayed speech and language development
  • Palpitations
  • Asthma
  • Difficulty inhaling (aspiration)
  • Abnormal movement of the cilia (immotile cilia)
  • Low lymphocyte levels (lymphopenia)
  • Enlarged breasts (gynecomastia) – likely caused by medications
Current Treatments
  • Albuterol, Advair, Singulair – asthma
  • Flonase, cetirizine – allergies
  • Omeprazole
  • Sulfamethoxazole
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • 22q11.2 deletion syndrome
  • Ataxia telangiectasia
  • Mitochondrial condition
  • Primary ciliary dyskinesia
  • Single gene disorder
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
chr11:128442970; chr11:128350323
NM_001143820; NM_001143820
c.56G>A; c.886T>A
p.Arg19His; p.Phe296Ile
Contact

If this participant sounds like you or someone you know, please contact us!

Disclaimer

The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.

Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.

Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.

The use of any information provided on this site is solely at your own risk.

Top