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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. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.

 

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 (hg19)
Transcript
DNA Change
Protein Change
ETS1
Unknown
chr11:g.128442970C>T & chr11:g.128350323A>T
NM_001143820.1
c.56G>A & c.886T>A
p.Arg19His & p.Phe296Ile
Contact

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