Sandbox:ap: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
No edit summary
Line 22: Line 22:
!Clinical features
!Clinical features
|-
|-
| colspan="2" |Autoimmune<ref name="pmid2348835">{{cite journal |vauthors=Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J |title=Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients |journal=N. Engl. J. Med. |volume=322 |issue=26 |pages=1829–36 |year=1990 |pmid=2348835 |doi=10.1056/NEJM199006283222601 |url=}}</ref>
| colspan="2" |Autoimmune
| Autoimmune polyglandular hypoparathyroidism
| Autoimmune polyglandular hypoparathyroidism
| Autoimmune polyglandular endocrinopathy type 1
| Autoimmune polyglandular endocrinopathy type 1
Line 34: Line 34:
*Dystrophy of dental enamel and nails, alopecia, vitiligo, and keratopath
*Dystrophy of dental enamel and nails, alopecia, vitiligo, and keratopath
|-
|-
| rowspan="6" |Isolated
| colspan="2" rowspan="7" |Isolated
|
| colspan="2" rowspan="5" |Familial Isolated hypoparathyroidism
|Familial Isolated hypoparathyroidism
|
| rowspan="2" |Autosomal dominant
| rowspan="2" |Autosomal dominant
|PTH gene<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>
|PTH gene
|
|
|-
|-
|
|[[GCM2]] gene
|
|
|[[GCM2]] gene<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>
|
|
|-
|-
|
|
|
| rowspan="2" |Autosomal recessive
| rowspan="2" |Autosomal recessive
|PTH gene
|PTH gene
|
|
|-
|-
|
|
|
|[[GCM2]] gene
|[[GCM2]] gene
|
|
|-
|-
|
|
|
|X-linked
|X-linked
|
|
|
|
|-
|-
|
| rowspan="2" |Autosomal dominant hypercalcemia
|Autosomal dominant hypercalcemia<ref name="pmid278036722">{{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>
|Autosomal dominant hypocalcemia type 1
|Autosomal dominant hypocalcemia type 1
|
|
Line 75: Line 60:
|
|
|-
|-
|
|
|
|Autosomal dominant hypocalcemia type 2
|Autosomal dominant hypocalcemia type 2
|
|
Line 83: Line 65:
|
|
|-
|-
| rowspan="6" |Congenital multisystem syndromes
| colspan="2" rowspan="6" |Congenital multisystem syndromes
|
| colspan="2" |'''[[DiGeorge syndrome]]'''
|'''[[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>
|
|
|
|
|
|
|
|-
|-
|
| colspan="2" |'''[[CHARGE syndrome]]'''
|'''[[CHARGE syndrome]]'''<ref name="pmid21995344">{{cite journal |vauthors=Jain S, Kim HG, Lacbawan F, Meliciani I, Wenzel W, Kurth I, Sharma J, Schoeneman M, Ten S, Layman LC, Jacobson-Dickman E |title=Unique phenotype in a patient with CHARGE syndrome |journal=Int J Pediatr Endocrinol |volume=2011 |issue= |pages=11 |year=2011 |pmid=21995344 |pmc=3216247 |doi=10.1186/1687-9856-2011-11 |url=}}</ref>
|
|
|
|
|
|
|
|-
|-
|
| colspan="2" |'''Kenny-Caffey syndrome type 1'''
|'''Kenny-Caffey syndrome type 1'''<ref name="pmid23087875">{{cite journal |vauthors=Metwalley KA, Farghaly HS |title=Kenny-Caffey syndrome type 1 in an Egyptian girl |journal=Indian J Endocrinol Metab |volume=16 |issue=5 |pages=827–9 |year=2012 |pmid=23087875 |pmc=3475915 |doi=10.4103/2230-8210.100645 |url=}}</ref>
|
|
|
|
|
|
|
|-
|-
|
| colspan="2" |'''Kenny-Caffey syndrome type 2'''
|'''Kenny-Caffey syndrome type 2'''<ref name="pmid23996431">{{cite journal |vauthors=Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, Kitanaka S |title=A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2 |journal=J. Bone Miner. Res. |volume=29 |issue=4 |pages=992–8 |year=2014 |pmid=23996431 |doi=10.1002/jbmr.2091 |url=}}</ref>
|
|
|
|
|
|
|
|-
|-
|
| colspan="2" |'''Sanjad-Sakati syndrome'''
|'''Sanjad-Sakati syndrome'''<ref name="pmid22043344">{{cite journal |vauthors=Rafique B, Al-Yaarubi S |title=Sanjad-Sakati Syndrome in Omani children |journal=Oman Med J |volume=25 |issue=3 |pages=227–9 |year=2010 |pmid=22043344 |pmc=3191633 |doi=10.5001/omj.2010.63 |url=}}</ref>
|
|
|
|
|
|
|
|-
|-
|
| colspan="2" |'''[[Barakat syndrome]]'''
|'''[[Barakat syndrome]]'''<ref name="pmid11389161">{{cite journal |vauthors=Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T |title=GATA3 abnormalities and the phenotypic spectrum of HDR syndrome |journal=J. Med. Genet. |volume=38 |issue=6 |pages=374–80 |year=2001 |pmid=11389161 |pmc=1734904 |doi= |url=}}</ref><ref name="pmid10935639">{{cite journal |vauthors=Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K |title=GATA3 haplo-insufficiency causes human HDR syndrome |journal=Nature |volume=406 |issue=6794 |pages=419–22 |year=2000 |pmid=10935639 |doi=10.1038/35019088 |url=}}</ref>
|
|
|
|
|
Line 127: Line 97:
|-
|-
| rowspan="6" |Metabolic diseases
| rowspan="6" |Metabolic diseases
| rowspan="2" |Mitochondiral polyneuropathies<ref name="pmid27716753">{{cite journal |vauthors=Chow J, Rahman J, Achermann JC, Dattani MT, Rahman S |title=Mitochondrial disease and endocrine dysfunction |journal=Nat Rev Endocrinol |volume=13 |issue=2 |pages=92–104 |year=2017 |pmid=27716753 |doi=10.1038/nrendo.2016.151 |url=}}</ref>
| rowspan="2" |Mitochondiral polyneuropathies
|Kearns–Sayre syndrome
| colspan="2" |Kearns–Sayre syndrome
|
|
|
|
|
|
|
|-
|-
|Maternally inherited diabetes and deafness (MIDD)
| colspan="2" |Maternally inherited diabetes and deafness (MIDD)
|
|
|
|
|
Line 141: Line 109:
|-
|-
| rowspan="2" |Mitochondrial enzyme deficiencies
| rowspan="2" |Mitochondrial enzyme deficiencies
|Mitochondrial trifunctional protein deficiency (MTP deficiency)<ref name="pmid16523289">{{cite journal |vauthors=Labarthe F, Benoist JF, Brivet M, Vianey-Saban C, Despert F, de Baulny HO |title=Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency |journal=Eur. J. Pediatr. |volume=165 |issue=6 |pages=389–91 |year=2006 |pmid=16523289 |doi=10.1007/s00431-005-0052-5 |url=}}</ref>
| colspan="2" |Mitochondrial trifunctional protein deficiency (MTP deficiency)
|
|
|
|
|
|
|
|-
|-
|Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency)<ref name="pmid9403664">{{cite journal |vauthors=Tyni T, Rapola J, Palotie A, Pihko H |title=Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation |journal=J. Pediatr. |volume=131 |issue=5 |pages=766–8 |year=1997 |pmid=9403664 |doi= |url=}}</ref>
| colspan="2" |Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency)
|
|
|
|
|
Line 154: Line 120:
|-
|-
| rowspan="2" |Heavy metal storage disorders
| rowspan="2" |Heavy metal storage disorders
|Hemochromatosis<ref name="pmid24741460">{{cite journal |vauthors=Jeong HK, An JH, Kim HS, Cho EA, Han MG, Moon JS, Kim HK, Kang HC |title=Hypoparathyroidism and subclinical hypothyroidism with secondary hemochromatosis |journal=Endocrinol Metab (Seoul) |volume=29 |issue=1 |pages=91–5 |year=2014 |pmid=24741460 |pmc=3970271 |doi=10.3803/EnM.2014.29.1.91 |url=}}</ref>
| colspan="2" |Hemochromatosis
|
|
|
|
|
|
|
|-
|-
|Wilson's disease<ref name="pmid6888480">{{cite journal |vauthors=Carpenter TO, Carnes DL, Anast CS |title=Hypoparathyroidism in Wilson's disease |journal=N. Engl. J. Med. |volume=309 |issue=15 |pages=873–7 |year=1983 |pmid=6888480 |doi=10.1056/NEJM198310133091501 |url=}}</ref>
| colspan="2" |Wilson's disease
|
|
|
|
|

Revision as of 18:22, 29 September 2017

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Hypercalcemia
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Related to Parathyroid gland
 
 
 
 
 
 
 
 
 
 
 
Unrelated to parathyroid gland
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Primary hyperparathyroidism
 
 
Secondary hyperparathyroidism
 
 
Tertiary hyperparathyroidism
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Typical primary hyperparathyroidism
 
Familial hypocalciuric hypercalcemia
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Malignancy
 
 
 
 
 
Medication induced
 
 
 
Nutritional
 
 
 
 
Granulomatous disease
 
 
Surgical
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Para-neoplastic syndrome: Parathyroid hormone related peptide
 
Metaplasia: Hypercalcemia due to bone destruction
 
Thiazide diuretics
 
Lithium
 
Milk alkali syndrome
 
Vitamin D toxicity
 
Sarcoidosis
 
 
Immobilization
 

Differential diagnosis

Hypoparathyroidism Inheritance Gene mutation Clinical features
Autoimmune Autoimmune polyglandular hypoparathyroidism Autoimmune polyglandular endocrinopathy type 1 Autosomal recessive disease Mutation in AIRE gene
  • Also known as autosomal recessive disease called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
  • Presents with a variable combination of:
    • Failure of the parathyroid glands, adrenal cortex, gonads, pancreatic beta cells, gastric parietal cells, and thyroid gland, and hepatitis
  • Chronic mucocutaneous candidiasis
  • Dystrophy of dental enamel and nails, alopecia, vitiligo, and keratopath
Isolated Familial Isolated hypoparathyroidism Autosomal dominant PTH gene
GCM2 gene
Autosomal recessive PTH gene
GCM2 gene
X-linked
Autosomal dominant hypercalcemia Autosomal dominant hypocalcemia type 1
Autosomal dominant hypocalcemia type 2
Congenital multisystem syndromes DiGeorge syndrome
CHARGE syndrome
Kenny-Caffey syndrome type 1
Kenny-Caffey syndrome type 2
Sanjad-Sakati syndrome
Barakat syndrome
Metabolic diseases Mitochondiral polyneuropathies Kearns–Sayre syndrome
Maternally inherited diabetes and deafness (MIDD)
Mitochondrial enzyme deficiencies Mitochondrial trifunctional protein deficiency (MTP deficiency)
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency)
Heavy metal storage disorders Hemochromatosis
Wilson's disease
Retrieved from "https://www.wikidoc.org/index.php?title=Sandbox:ap&oldid=1368820"