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Participant 102


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 gastrointestinal dysmotility and chronic constipation

Date of Report

Jan 03, 2019

Description

The participant began experiencing chronic constipation at age 6. Testing identified GI issues (gastrointestinal dysmotility) and he was treated with a cecostomy tube at 8 years old. Since then, his constipation has gotten progressively worse and he has not been able to be weaned off of the cecostomy tube. Some of his other symptoms include asthma and a benign brain mass (Rathke’s cleft cyst). With the exception of these symptoms, the participant has had normal development.

Symptoms / Signs
  • Muscle dysfunction in GI tract (gastrointestinal dysmotility, distal colonic inertia, abnormal retrograde proximal colonic motor problems)
  • Large and redundant sigmoid colon
  • Chronic constipation
  • Asthma
  • Obstructive sleep apnea
  • Benign brain mass (Rathke’s cleft cyst)
Current Treatments
  • Advair, Proair – asthma
  • Cecostomy tube – chronic constipation
Prior Treatments
  • Laxatives – chronic constipation
Considered treatments
Previously Considered Diagnoses
  • Agangliosis
  • Hirschsprung disease
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
PDE3A
Autosomal recessive
chr12:g.20522979A>G
NM_000921.4
c.761A>G
p.Tyr254Cys
Contact

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

Disclaimer

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