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Participant 215


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.

 

Female, age 10, with low oxygen level in the blood (chronic hypoxemia), lung disease that causes lung scarring (pulmonary fibrosis), respiratory failure, and delayed speech and language development.

Date of Report

Oct 16, 2023

Description

At the age of 4, the participant started having breathing problems. Shortly after, she had a bluish color to the skin due to low blood oxygen levels (cyanosis). These symptoms were determined to be the result of interstitial lung disease, which led to mild high blood pressure in the lungs (pulmonary arterial hypertension) and subsequently respiratory failure. As a result, she underwent a lung transplant at the age of 6. She is doing well after transplant.   

At the age of 3, parents noticed a delay in the participant’s speech. At the age of 5, she could not speak in sentences and read/write for her age level. After the lung transplant she has shown progress in her speech. Imaging of blood vessels in the head (CT angiography) was normal. 

Symptoms / Signs
  • Respiratory failure  
  • Lung disease that causes lung scarring (pulmonary fibrosis) 
  • Secondary mild high blood pressure in the lungs (pulmonary arterial hypertension)  
  • Low oxygen level in the blood (chronic hypoxemia) 
  • Delayed speech and language development  
  • Enlargement of lung cells (type II pneumocyte hyperplasia)  
Current Treatments
  • Aqueous vitamin D  
  • Atorvastatin/Lipitor 
  • Azithromycin 
  • Blood Glucose Monitoring 
  • Citracal (calcium and vitamin supplements)  
  • Fluticasone oral inhalation (inhaler) 
  • Lung transplant  
  • Magnesium oxide 
  • Montelukast 
  • Mycophenolate 
  • Sulfamethoxazole/trimethoprim   
  • Tacrolimus 
Prior Treatments
  • Physical therapy  
  • Omeprazole 
  • Prednisolone 
  • Melatonin 
  • Polyethylene glycol 
Considered treatments
Previously Considered Diagnoses
  • Lung diseases  
  • Microdeletion/microduplication syndromes  
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 (leading candidate gene: TMEM63B): 

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
TMEM63B
Autosomal recessive
chr6:g.44115223C>T
NM_018426.1
c.973C>T
p.Arg325Ter
RNF213
Unknown
chr17:g.78322089G>T & g.78280174T>C
NM_001256071.1
c.9951+3G>T & c.2333T>C
N/A & p.Ile778Thr
ABCA3
Unknown
chr16: g.2347420C>T
NM_001089.2
c.2173G>A
p.Glu725Lys
Contact

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

Disclaimer

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