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| __NOTOC____NOTOC__
| | __NOTOC__ |
| {{Hyperparathyroidism}}
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| {{CMG}}; {{AE}} {{Anmol}} | | {{CMG}}; {{AE}} {{Anmol}} |
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| == Classification == | | ==Tables== |
| {| class="wikitable" | | {| class="wikitable" |
| ! colspan="4" |Classification of hyperparathyridism | | |+ |
| | !Diagnosis |
| | !Lab findings |
| | ! |
| | ! |
| |- | | |- |
| |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. | | | |
| |-
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| |Serum calcium
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| |High
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| |Low/Normal
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| |High
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| |-
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| |Serum phosphate
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| |Low/Normal
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| |High
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| |High
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| |-
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| |Management
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| |Usually surgery if symptomatic. Cincacalcet can be considered in those not fit for surgery.
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| |Treatment of underlying cause.
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| |Usually cinacalcet or surgery in those that don't respond.
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| |} | | |} |
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| =Causes=
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| ===Common Causes===
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| *Post-surgical (most common cause)<ref name="pmid11117980">{{cite journal |vauthors=Marx SJ |title=Hyperparathyroid and hypoparathyroid disorders |journal=N. Engl. J. Med. |volume=343 |issue=25 |pages=1863–75 |year=2000 |pmid=11117980 |doi=10.1056/NEJM200012213432508 |url=}}</ref>
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| **[[Thyroidectomy]]
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| **[[Parathyroidectomy]]
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| **Radical neck dissection
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| *Autoimmune (2nd most common cause)<ref name="pmid15141045">{{cite journal |vauthors=Eisenbarth GS, Gottlieb PA |title=Autoimmune polyendocrine syndromes |journal=N. Engl. J. Med. |volume=350 |issue=20 |pages=2068–79 |year=2004 |pmid=15141045 |doi=10.1056/NEJMra030158 |url=}}</ref>
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| **Polyglandular autoimmune syndrome type 1
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| **Isolated autoimmune hypoparathyroidism
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| ===Less Common Causes===
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| *Infiltration and/or destruction of parathyroid glands
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| **Metal overload
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| ***Iron overload
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| ****Hemochromatosis
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| ****Thalassemia ( due to repeated blood transfusion)
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| ***Copper overload
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| ****Wilson's disease
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| ***Aluminium deposition
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| ****Usually seen in patients with end-stage renal disease on hemodialysis
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| ***Hypermagnesemia
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| **Radiation-induced destruction parathyroid glands
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| **Hypomagnesemia (reversible)
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| **Metastatic disease
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| **Granulomatous disease
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| ***Amyloidosis
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| **Syphilis
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| *Progressive systemic sclerosis
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| *Neonatal cause
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| **Maternal hyperparathyroidism
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| *Genetic causes
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| ===Genetic Causes===
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| *X autosomal-recessive primary hypoparathyroidism
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| *Branchial dysgenesis (DiGeorge syndrome)
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| *Chromosomal defects dup(1q),del(5p),dup(8q),del(10q),del(22q)
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| *Monogenic hypoparathyroidism
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| *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.)
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| *Zellweger syndrome
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| *Diabetic embryopathy
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| *Fetal alcohol syndrome
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| *Retinoid embryopathy
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| *Isolated hypoparathyroidism
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| **Autosomal dominant
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| ***Autosomal dominant familial isolated hypoparathyroidism caused by PTH gene mutation<ref name="pmid2212001">{{cite journal |vauthors=Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM |title=Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism |journal=J. Clin. Invest. |volume=86 |issue=4 |pages=1084–7 |year=1990 |pmid=2212001 |pmc=296835 |doi=10.1172/JCI114811 |url=}}</ref>
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| ***Autosomal dominant familial isolated hypoparathyroidism caused by caused by glial cells missing 2 (GCM2) gene mutation - Dominant negative effect<ref name="pmid18712808">{{cite journal |vauthors=Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN |title=Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism |journal=Hum. Mutat. |volume=30 |issue=1 |pages=85–92 |year=2009 |pmid=18712808 |doi=10.1002/humu.20827 |url=}}</ref>
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| ***Autosomal dominant hypocalcemia<ref name="pmid27803672">{{cite journal |vauthors=Roszko KL, Bi RD, Mannstadt M |title=Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2 |journal=Front Physiol |volume=7 |issue= |pages=458 |year=2016 |pmid=27803672 |pmc=5067375 |doi=10.3389/fphys.2016.00458 |url=}}</ref>
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| ****Autosomal dominant hypocalcemia type 1
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| *****Calcium-sensing activating mutation
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| *****Most common genetic form of hypoparathyroidism
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| *****Also known as familial hypercalciuric hypocalcemia
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| *****The activating mutation results in gain in function
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| *****Calcium-sensing receptor gene activating mutation can also cause Bartter syndrome type 5.This mutation cause the inhibition of apical potassium channel in the thick ascending limb of the loop of Henle in the kidney.<ref name="pmid17048213">{{cite journal |vauthors=Vezzoli G, Arcidiacono T, Paloschi V, Terranegra A, Biasion R, Weber G, Mora S, Syren ML, Coviello D, Cusi D, Bianchi G, Soldati L |title=Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome |journal=J. Nephrol. |volume=19 |issue=4 |pages=525–8 |year=2006 |pmid=17048213 |doi= |url=}}</ref><ref name="pmid25932037">{{cite journal |vauthors=Choi KH, Shin CH, Yang SW, Cheong HI |title=Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C |journal=Korean J Pediatr |volume=58 |issue=4 |pages=148–53 |year=2015 |pmid=25932037 |pmc=4414630 |doi=10.3345/kjp.2015.58.4.148 |url=}}</ref>
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| ****Autosomal dominant hypocalcemia type 2
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| *****G protein G11 (GNA11) mutation
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| **Autosomal recessive
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| ***Autosomal recessive familial isolated hypoparathyroidism caused by PTH gene mutation<ref name="pmid10523031">{{cite journal |vauthors=Sunthornthepvarakul T, Churesigaew S, Ngowngarmratana S |title=A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism |journal=J. Clin. Endocrinol. Metab. |volume=84 |issue=10 |pages=3792–6 |year=1999 |pmid=10523031 |doi=10.1210/jcem.84.10.6070 |url=}}</ref>
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| ***Autosomal recessive familial isolated hypoparathyroidism caused by glial cells missing 2 (GCM2) gene mutation<ref name="pmid11602629">{{cite journal |vauthors=Ding C, Buckingham B, Levine MA |title=Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB |journal=J. Clin. Invest. |volume=108 |issue=8 |pages=1215–20 |year=2001 |pmid=11602629 |pmc=209530 |doi=10.1172/JCI13180 |url=}}</ref><ref name="pmid18712808">{{cite journal |vauthors=Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN |title=Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism |journal=Hum. Mutat. |volume=30 |issue=1 |pages=85–92 |year=2009 |pmid=18712808 |doi=10.1002/humu.20827 |url=}}</ref>
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| **X-linked
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| ***X-linked recessive hypoparathyroidism
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| ****Caused by mutation in gene variant FHL1 (exon 4, c.C283T, p.R95W) on chromosome locus Xq26-q27.<ref name="pmid28444561">{{cite journal |vauthors=Pillar N, Pleniceanu O, Fang M, Ziv L, Lahav E, Botchan S, Cheng L, Dekel B, Shomron N |title=A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism |journal=Hum. Genet. |volume=136 |issue=7 |pages=835–845 |year=2017 |pmid=28444561 |pmc=5487855 |doi=10.1007/s00439-017-1804-9 |url=}}</ref>
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| *Congenital multisystem syndromes
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| **DiGeorge syndrome<ref name="pmid21049214">{{cite journal |vauthors=Fomin AB, Pastorino AC, Kim CA, Pereira CA, Carneiro-Sampaio M, Abe-Jacob CM |title=DiGeorge Syndrome: a not so rare disease |journal=Clinics (Sao Paulo) |volume=65 |issue=9 |pages=865–9 |year=2010 |pmid=21049214 |pmc=2954737 |doi= |url=}}</ref>
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| ***Presents with thymus dysfunction, cardiac diseases, immunodeficiency, hypocalcemia, and other clinical problems
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| ***Caused by 22q11.2 deletion
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| ***Also known as 22q11.2DS, autosomal dominant Opitz G/BBB syndrome, CATCH 22 Syndromes, Cayler cardiofacial syndrome, conotruncal anomaly face syndrome (CTAF), deletion 22q11.2 syndrome, Sedlackova syndrome, Shprintzen syndrome, VCFS, velocardiofacial syndrome, and velo-cardio-facial syndrome.
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| ***Presents with coloboma, heart defects, atresia choanae, retarded growth and development, genitourinary abnormalities, and ear anomalies and/or deafness.
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| ***Caused by CHD7 G744S missense mutation
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| **Cardiofacial–DiGeorge–Kenny-Caffey syndrome (ie, absent parathyroid tissue, growth retardation, medullary stenosis of tubular bones)
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| **Kearns-Sayre syndrome (ie, mitochondrial myopathy, ophthalmoplegia, retinal degeneration, cardiac conduction defects, primary hypoparathyroidism)
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| **Barakat syndrome al retardation, and seizures
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| **Sanjad-Sakati syndrome (hypoparathyroidism – intellectual disability – dysmorphism)
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| ==References== | | ==References== |
| | {{reflist|2}} |