Pacak–Zhuang syndrome
| Pacak–Zhuang syndrome | |
|---|---|
| Synonyms | |
| Pronounce | N/A |
| Specialty | Endocrinology, Genetics |
| Symptoms | Paraganglioma, somatostatinoma, polycythemia |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation in EPAS1 |
| Risks | |
| Diagnosis | Genetic testing, imaging studies |
| Differential diagnosis | |
| Prevention | |
| Treatment | Surgery, radiotherapy, chemotherapy |
| Medication | |
| Prognosis | |
| Frequency | |
| Deaths | |
Pacak-Zhuang syndrome is a rare endocrine disorder characterized by the presence of pheochromocytoma and paraganglioma. The syndrome is named after Dr. Karel Pacak and Dr. Zhengping Zhuang, who first described it.
Symptoms
The symptoms of Pacak-Zhuang syndrome can vary greatly from person to person. However, common symptoms include hypertension, headache, palpitations, and sweating. These symptoms are often episodic and can be triggered by stress, physical exertion, or certain foods.
Causes
Pacak-Zhuang syndrome is caused by mutations in the MAX gene. This gene provides instructions for making a protein that helps control cell growth and division. Mutations in the MAX gene disrupt this control, leading to the formation of tumors in the adrenal glands and other parts of the body.
Diagnosis
Diagnosis of Pacak-Zhuang syndrome is based on a combination of clinical symptoms, family history, and genetic testing. Imaging tests such as CT scan or MRI may also be used to locate tumors.
Treatment
Treatment for Pacak-Zhuang syndrome typically involves surgery to remove the tumors. Medications may also be used to manage symptoms. In some cases, radiation therapy or chemotherapy may be recommended.
Prognosis
The prognosis for individuals with Pacak-Zhuang syndrome varies depending on the size and location of the tumors, as well as the individual's overall health. With appropriate treatment, many individuals with this syndrome can live normal, healthy lives.
See also
References
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