Sandbox : anmol
Hyperparathyroidism Microchapters |
Diagnosis |
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Treatment |
Case Studies |
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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 | |||
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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
Common Causes
- Post-surgical (most common cause)[1]
- Thyroidectomy
- Parathyroidectomy
- Radical neck dissection
- Autoimmune (2nd most common cause)[2]
- Polyglandular autoimmune syndrome type 1
- Isolated autoimmune hypoparathyroidism
Less Common Causes
- Infiltration and/or destruction of parathyroid glands
- Metal overload
- Iron overload
- Hemochromatosis
- Thalassemia ( due to repeated blood transfusion)
- Copper overload
- Wilson's disease
- Aluminium deposition
- Usually seen in patients with end-stage renal disease on hemodialysis
- Hypermagnesemia
- Iron overload
- Radiation-induced destruction parathyroid glands
- Hypomagnesemia (reversible)
- Metastatic disease
- Granulomatous disease
- Amyloidosis
- Syphilis
- Metal overload
- Progressive systemic sclerosis
- Neonatal cause
- Maternal hyperparathyroidism
- Genetic causes
Genetic Causes
- Isolated primary hypoparathyroidism
- X-linked primary hypoparathyroidism (band Xq26-Xq27)
- X autosomal-recessive primary hypoparathyroidism
- Branchial dysgenesis (DiGeorge syndrome)
- Chromosomal defects dup(1q),del(5p),dup(8q),del(10q),del(22q)
- Monogenic hypoparathyroidism
- Velocardiofacial (Shprintzen) syndrome (CATCH 22 [for cardiac, abnormal facies, thymic aplasia, cleft palate, and hypocalcemia with 22q deletion] is a mnemonic for the features of this syndrome.)
- Zellweger syndrome
- Diabetic embryopathy
- Fetal alcohol syndrome
- Retinoid embryopathy
- Associational arhinencephalia and/or DiGeorge syndrome and the coloboma, heart disease, choanal atresia, retarded growth and development, genital anomalies, ear anomalies (CHARGE) syndrome and/or DiGeorge syndrome
- Cardiofacial–DiGeorge–Kenny-Caffey syndrome (ie, absent parathyroid tissue, growth retardation, medullary stenosis of tubular bones)
- Kearns-Sayre syndrome (ie, mitochondrial myopathy, ophthalmoplegia, retinal degeneration, cardiac conduction defects, primary hypoparathyroidism)
- Barakat syndrome (ie, primary hypoparathyroidism, nerve deafness, steroid-resistant nephrosis)
- Hypoparathyroidism with short stature, mental retardation, and seizures
- Familial isolated hypoparathyroidism
- Sanjad-Sakati syndrome (hypoparathyroidism – intellectual disability – dysmorphism)
References
- ↑ Marx SJ (2000). "Hyperparathyroid and hypoparathyroid disorders". N. Engl. J. Med. 343 (25): 1863–75. doi:10.1056/NEJM200012213432508. PMID 11117980.
- ↑ Eisenbarth GS, Gottlieb PA (2004). "Autoimmune polyendocrine syndromes". N. Engl. J. Med. 350 (20): 2068–79. doi:10.1056/NEJMra030158. PMID 15141045.