Sandbox : anmol: Difference between revisions
Jump to navigation
Jump to search
Line 60: | Line 60: | ||
*Parathyroid hyperplasia | *Parathyroid hyperplasia | ||
*Parathyroid carcinoma | *Parathyroid carcinoma | ||
*Radiation exposure (due to development of parathyroid adenoma or parathyroid hyperplasia) | *Radiation exposure (due to development of parathyroid adenoma or parathyroid hyperplasia) | ||
===Genetic causes=== | ===Genetic causes=== | ||
*HRPT2 gene mutations: | *HRPT2 gene mutations: | ||
**HRPT2 gene code for parafibromin protein. | **HRPT2 gene code for parafibromin protein. | ||
**HRPT2 gene mutations are found in a type of familial hyperparathyroidism, hyperparathyroidism-jaw tumor (HPT-JT) syndrome. | **HRPT2 gene mutations are found in a type of familial hyperparathyroidism, hyperparathyroidism-jaw tumor (HPT-JT) syndrome. | ||
**HRTP2 gene mutations increases risk of parathyroid carcinoma. | **HRTP2 gene mutations increases risk of parathyroid carcinoma. | ||
*Cyclin D1 gene (CCND1)/PRAD1 gene: | *Cyclin D1 gene (CCND1)/PRAD1 gene: | ||
**PRAD1 (parathyroid adenoma 1) is a protooncogene located on chromosome 11q13. | **PRAD1 (parathyroid adenoma 1) is a protooncogene located on chromosome 11q13. | ||
**Cyclin D1 gene translocation and oncogene action observerd in 8% of adenomas | **Cyclin D1 gene translocation and oncogene action observerd in 8% of adenomas | ||
**Cyclin D1 gene overexpression is pbserved in 20% to 40% of parathyroid adenomas | **Cyclin D1 gene overexpression is pbserved in 20% to 40% of parathyroid adenomas | ||
*MEN1 gene:<ref name="pmid19373510">{{cite journal| author=Westin G, Björklund P, Akerström G| title=Molecular genetics of parathyroid disease. | journal=World J Surg | year= 2009 | volume= 33 | issue= 11 | pages= 2224-33 | pmid=19373510 | doi=10.1007/s00268-009-0022-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19373510 | *MEN1 gene:<ref name="pmid19373510">{{cite journal| author=Westin G, Björklund P, Akerström G| title=Molecular genetics of parathyroid disease. | journal=World J Surg | year= 2009 | volume= 33 | issue= 11 | pages= 2224-33 | pmid=19373510 | doi=10.1007/s00268-009-0022-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19373510 }} </ref> | ||
**MEN1 is a tumor supressor gene on chronosome 11q13. | **MEN1 is a tumor supressor gene on chronosome 11q13. | ||
**Somatic loss of single MEN1 allele is observed in 25% to 40% of sporadic parathyroid adenomas. | **Somatic loss of single MEN1 allele is observed in 25% to 40% of sporadic parathyroid adenomas. | ||
Line 78: | Line 78: | ||
Causes of secondary hyperparathyroidism are as follows: | Causes of secondary hyperparathyroidism are as follows: | ||
===Common causes=== | ===Common causes=== | ||
*Chronic | *Chronic kidney disease (leading to parathyroid hyperplasia) | ||
*Vitamin D deficiency | *Vitamin D deficiency | ||
Line 90: | Line 90: | ||
==References== | ==References== | ||
<references /> |
Revision as of 15:01, 15 August 2017
Hyperparathyroidism Microchapters |
Diagnosis |
---|
Treatment |
Case Studies |
Sandbox : anmol On the Web |
American Roentgen Ray Society Images of Sandbox : anmol |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Classification
Classification of hyperparathyridism | |||
---|---|---|---|
Features | Primary hyperparathyroidism | Secondary hyperparathyroidism | Tertiary hyperparathyroidism |
Pathology | Hyperfunction of parathyroid cells due to hyperplasia, adenoma or carcinoma. | Physiological stimulation of parathyroid in response to hypocalcaemia. | Following long term physiological stimulation leading to hyperplasia. |
Cause | |||
Associations | May be associated with multiple endocrine neoplasia. | Usually due to chronic renal failure or other causes of Vitamin D deficiency. | Seen in chronic renal failure. |
Serum calcium | High | Low/Normal | High |
Serum phosphate | Low/Normal | High | High |
Management | Usually surgery if symptomatic. Cincacalcet can be considered in those not fit for surgery. | Treatment of underlying cause. | Usually cinacalcet or surgery in those that don't respond. |
Causes
Overview
Hyperparathyroidism is caused by an increase in concentration of parathyroid hormone in serum. There are three type of hyperparathyroidism including primary, secondary and tertiary hyperparathyroidism. The causes of all hyperparathyroidism is different.
Causes of Primary hyperparathyroidism
Causes of primary hyperparathyroidism are as follows:
Common causes
- Parathyroid adenoma
- Usually single gland affected
- Sometimes multiple gland affected
Less common causes
- Parathyroid hyperplasia
- Parathyroid carcinoma
- Radiation exposure (due to development of parathyroid adenoma or parathyroid hyperplasia)
Genetic causes
- HRPT2 gene mutations:
- HRPT2 gene code for parafibromin protein.
- HRPT2 gene mutations are found in a type of familial hyperparathyroidism, hyperparathyroidism-jaw tumor (HPT-JT) syndrome.
- HRTP2 gene mutations increases risk of parathyroid carcinoma.
- Cyclin D1 gene (CCND1)/PRAD1 gene:
- PRAD1 (parathyroid adenoma 1) is a protooncogene located on chromosome 11q13.
- Cyclin D1 gene translocation and oncogene action observerd in 8% of adenomas
- Cyclin D1 gene overexpression is pbserved in 20% to 40% of parathyroid adenomas
- MEN1 gene:[1]
- MEN1 is a tumor supressor gene on chronosome 11q13.
- Somatic loss of single MEN1 allele is observed in 25% to 40% of sporadic parathyroid adenomas.
Causes of secondary hyperparathyroidism
Causes of secondary hyperparathyroidism are as follows:
Common causes
- Chronic kidney disease (leading to parathyroid hyperplasia)
- Vitamin D deficiency
Less common causes
- Severe calcium deficiency
Causes of tertiary hyperparathyroidism
Causes of tertiary hyperparathyroidism are as follows:
Common causes
- Chronic renal failure
References
- ↑ Westin G, Björklund P, Akerström G (2009). "Molecular genetics of parathyroid disease". World J Surg. 33 (11): 2224–33. doi:10.1007/s00268-009-0022-6. PMID 19373510.