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| == Differential diagnosis == | | =Codes= |
| {| class="wikitable"
| | <div style="text-align: center;">'''Corrected total calcium = measured total calcium + 0.8 (4.0 − serum albumin)''' </div> |
| ! colspan="4" |Hypoparathyroidism
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| !Inheritance
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| !Gene mutation
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| !Clinical features
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| | colspan="4" |Autoimmune
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| | colspan="2" rowspan="7" |Isolated
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| | colspan="2" rowspan="5" |Familial Isolated hypoparathyroidism
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| | rowspan="2" |[[Autosomal dominant]]
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| |PTH gene
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| |[[GCM2]] gene
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| |[[Dominant negative mutation]]
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| | rowspan="2" |[[Autosomal recessive]]
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| |PTH gene<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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| |[[GCM2]] gene<ref name="pmid18712808" /><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>
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| |[[X-linked]]
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| |[[FHL1 (gene)|FHL1]] gene (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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| | rowspan="2" |Autosomal dominant hypercalcemia
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| |Autosomal dominant hypocalcemia type 1
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| |[[Autosomal dominant]]
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| |G protein G11 (GNA11) mutation
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| *[[Calcium-sensing receptor|Calcium-sensing]] receptor gene 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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| |[[Autosomal dominant]]
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| |G protein G11 (GNA11) mutation
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| | colspan="2" rowspan="6" |Congenital multisystem syndromes
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| |'''[[DiGeorge syndrome]]'''
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| |[[Autosomal dominant]]
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| |[[22q11.2 deletion syndrome|22q11.2 deletion]].
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| * Presents with [[thymus]] [[dysfunction]], [[cardiac]] defects, [[immunodeficiency]], [[hypocalcemia]], and other clinical problems.
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| *Also known as [[22q11.2DS]], [[CATCH 22 syndrome]], [[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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| *[[CATCH 22 syndrome|CATCH 22]] stands for [[cardiac]] defects, abnormal facies, [[thymic]] [[aplasia]], [[cleft palate]], and [[hypocalcemia]] with [[22q11.2 deletion syndrome|22q11.2 deletion]].
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| |'''[[CHARGE syndrome]]'''
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| |[[Autosomal dominant]]
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| |CHD7 G744S [[missense mutation]]
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| * Presents with [[coloboma]], [[heart]] defects, [[Choanal atresia|atresia choanae]], retarded growth and development, [[Genitourinary pathology|genitourinary abnormalities]], and [[ear]] anomalies and/or [[deafness]].
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| |'''Kenny-Caffey syndrome type 1'''
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| |[[Autosomal recessive]]
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| |Deletion of the [[TBCE]] gene
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| * Presents with [[hypoparathyroidism]] due to absent parathyroid tissue, growth retardation, medullary stenosis of tubular bones.
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| |'''Kenny-Caffey syndrome type 2'''
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| |[[Autosomal dominant]]
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| |Mutation of “family with sequence similarity 111, member A″ (FAM111A) gene located on chromosome locus 11q12.1
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| * Patients with Kenny-Caffey sundrome type 2 have same clinical features as Kenny-Caffey syndrome type 1 except for mental retardation.
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| |'''Sanjad-Sakati syndrome'''
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| |[[Autosomal recessive]]
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| |Mutation in [[TBCE]] gene.
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| * Sanjad-Sakati syndrome in exclusively found in arabian descent population.
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| * Presents with hypoparathyroidism, [[intellectual disability]], [[Dysmorphic feature|dysmorphism]].
| | <div style="width: 70%;"> |
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| |'''[[Barakat syndrome]]'''
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| |[[Autosomal recessive]]
| | ==References== |
| |[[Mutation|Mutations]] in the [[GATA3]] gene
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| *Also known as hypoparathyroidism, [[deafness]], and renal dysplasia (HDR) syndrome
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| *Presents with primary hypoparathyroidism, nerve [[deafness]], steroid-resistant [[nephrosis]].
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| | rowspan="6" |Metabolic diseases
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| | rowspan="2" |Mitochondiral polyneuropathies
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| |Kearns–Sayre syndrome
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| |Maternally inherited diabetes and deafness (MIDD)
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| | rowspan="2" |Mitochondrial enzyme deficiencies
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| |Mitochondrial trifunctional protein deficiency (MTP deficiency)
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| |Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency)
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| | rowspan="2" |Heavy metal storage disorders
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| |Hemochromatosis
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| |Wilson's disease
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| |}
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| <references />
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