PENDRED SYNDROME
~ a genetic disorder that causes early hearing loss in children and triggers excessive growth of the thyroid gland; can also affect ability to balance ~
Symptoms:
- Appearance: neck is swollen resulting from thyroid gland enlargement and weight gain despite the limited and poor appetite
- Disabilities and/or physical limitations: enlargement of thyroid limits appetite but promotes weight gain, difficulties in consuming food or liquids
- Behaviors: difficulties in breathing and swallowing, even cardiac complications
- Distinguishing Features: neck enlarged and mostly swollen, may be one big or small lump or multiple lumps of varied size along the neck
Pendred syndrome is typically diagnosed during childhood (specifically adolescence). The disease does not necessarily affect a human's lifespan but it does control it. The enlargement of the thyroid is what's called a goiter. -------------->
The goiter can limit breathing and consumption rate of liquids or foods but rarely for children. It usually appears after several years of hearing loss.
STATISTICS
-Children with the genetic disorder rarely have problems with growing and developing properly EVEN IF their thyroid is affected. Their levels of thyroid hormones are USUALLY normal.
-Pendred syndrome common in 1/10 children according to researchers
-Goiters found in 3% of school-aged children
PATHOLOGY/ETHIOLOGY: causes and affects of disease
~LACK OF IODIDE TRANSPORTATION THROUGH DISFUNCTIONING PENDRIN PROTEIN
~MUTATIONS IN THESE AREAS:
- Gene: SLC26A4 (PSD gene)
- Chromosome affected: Chromosome #7
- Coded protein: Pendrin
Chromosome #7 SLC26A4 Gene (PSD Gene)
Current Research
Thyroxine may be required is their is a deficiency in that type of hormone. Iodine supplementation is also given if there is a decrease of the iodine level in one’s diet. Other than those methods, there is no treatment c completely make a goiter disappear or make the syndrome go away. These treatments simply maintain and control the symptoms.
Thyroxine may be required is their is a deficiency in that type of hormone. Iodine supplementation is also given if there is a decrease of the iodine level in one’s diet. Other than those methods, there is no treatment c completely make a goiter disappear or make the syndrome go away. These treatments simply maintain and control the symptoms.
Citations:
http://www.nidcd.nih.gov/health/hearing/pages/pendred.aspx - NIH
http://www.medicinenet.com/pendred_syndrome/article.htm - MedicineNet
http://www.mayoclinic.org/diseases-conditions/goiter/basics/definition/con-20021266 - MayoClinic
https://www.surgery4children.com/diagnoses-and-treatment/neck/305-thyroid-disease-in-children - Pediatric Surgeons of Phoenix
http://www.daviddarling.info/encyclopedia/G/goiter.html - The Worlds of David Darling
http://flipper.diff.org/app/items/6287 - Item detail
http://tappergen564s14.weebly.com/gene.html - Pendred syndrome & the SLC26A4
http://www.nidcd.nih.gov/health/hearing/pages/pendred.aspx - NIH
http://www.medicinenet.com/pendred_syndrome/article.htm - MedicineNet
http://www.mayoclinic.org/diseases-conditions/goiter/basics/definition/con-20021266 - MayoClinic
https://www.surgery4children.com/diagnoses-and-treatment/neck/305-thyroid-disease-in-children - Pediatric Surgeons of Phoenix
http://www.daviddarling.info/encyclopedia/G/goiter.html - The Worlds of David Darling
http://flipper.diff.org/app/items/6287 - Item detail
http://tappergen564s14.weebly.com/gene.html - Pendred syndrome & the SLC26A4