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!Clinical features | !Clinical features | ||
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| colspan=" | | 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> | ||
| | | 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 | |||
|- | |- | ||
| rowspan="6" |Isolated | | rowspan="6" |Isolated | ||
Revision as of 18:11, 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[1] | Autoimmune polyglandular hypoparathyroidism | Autoimmune polyglandular endocrinopathy type 1 | Autosomal recessive disease | Mutation in AIRE gene |
| |
| Isolated | Familial Isolated hypoparathyroidism | Autosomal dominant | PTH gene[2] | |||
| GCM2 gene[3] | ||||||
| Autosomal recessive | PTH gene | |||||
| GCM2 gene | ||||||
| X-linked | ||||||
| Autosomal dominant hypercalcemia[4] | Autosomal dominant hypocalcemia type 1 | |||||
| Autosomal dominant hypocalcemia type 2 | ||||||
| Congenital multisystem syndromes | DiGeorge syndrome[5] | |||||
| CHARGE syndrome[6] | ||||||
| Kenny-Caffey syndrome type 1[7] | ||||||
| Kenny-Caffey syndrome type 2[8] | ||||||
| Sanjad-Sakati syndrome[9] | ||||||
| Barakat syndrome[10][11] | ||||||
| Metabolic diseases | Mitochondiral polyneuropathies[12] | Kearns–Sayre syndrome | ||||
| Maternally inherited diabetes and deafness (MIDD) | ||||||
| Mitochondrial enzyme deficiencies | Mitochondrial trifunctional protein deficiency (MTP deficiency)[13] | |||||
| Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency)[14] | ||||||
| Heavy metal storage disorders | Hemochromatosis[15] | |||||
| Wilson's disease[16] | ||||||
- ↑ Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J (1990). "Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients". N. Engl. J. Med. 322 (26): 1829–36. doi:10.1056/NEJM199006283222601. PMID 2348835.
- ↑ Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM (1990). "Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism". J. Clin. Invest. 86 (4): 1084–7. doi:10.1172/JCI114811. PMC 296835. PMID 2212001.
- ↑ Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN (2009). "Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism". Hum. Mutat. 30 (1): 85–92. doi:10.1002/humu.20827. PMID 18712808.
- ↑ Roszko KL, Bi RD, Mannstadt M (2016). "Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2". Front Physiol. 7: 458. doi:10.3389/fphys.2016.00458. PMC 5067375. PMID 27803672.
- ↑ Fomin AB, Pastorino AC, Kim CA, Pereira CA, Carneiro-Sampaio M, Abe-Jacob CM (2010). "DiGeorge Syndrome: a not so rare disease". Clinics (Sao Paulo). 65 (9): 865–9. PMC 2954737. PMID 21049214.
- ↑ Jain S, Kim HG, Lacbawan F, Meliciani I, Wenzel W, Kurth I, Sharma J, Schoeneman M, Ten S, Layman LC, Jacobson-Dickman E (2011). "Unique phenotype in a patient with CHARGE syndrome". Int J Pediatr Endocrinol. 2011: 11. doi:10.1186/1687-9856-2011-11. PMC 3216247. PMID 21995344.
- ↑ Metwalley KA, Farghaly HS (2012). "Kenny-Caffey syndrome type 1 in an Egyptian girl". Indian J Endocrinol Metab. 16 (5): 827–9. doi:10.4103/2230-8210.100645. PMC 3475915. PMID 23087875.
- ↑ 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 (2014). "A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2". J. Bone Miner. Res. 29 (4): 992–8. doi:10.1002/jbmr.2091. PMID 23996431.
- ↑ Rafique B, Al-Yaarubi S (2010). "Sanjad-Sakati Syndrome in Omani children". Oman Med J. 25 (3): 227–9. doi:10.5001/omj.2010.63. PMC 3191633. PMID 22043344.
- ↑ Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T (2001). "GATA3 abnormalities and the phenotypic spectrum of HDR syndrome". J. Med. Genet. 38 (6): 374–80. PMC 1734904. PMID 11389161.
- ↑ 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 (2000). "GATA3 haplo-insufficiency causes human HDR syndrome". Nature. 406 (6794): 419–22. doi:10.1038/35019088. PMID 10935639.
- ↑ Chow J, Rahman J, Achermann JC, Dattani MT, Rahman S (2017). "Mitochondrial disease and endocrine dysfunction". Nat Rev Endocrinol. 13 (2): 92–104. doi:10.1038/nrendo.2016.151. PMID 27716753.
- ↑ Labarthe F, Benoist JF, Brivet M, Vianey-Saban C, Despert F, de Baulny HO (2006). "Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency". Eur. J. Pediatr. 165 (6): 389–91. doi:10.1007/s00431-005-0052-5. PMID 16523289.
- ↑ Tyni T, Rapola J, Palotie A, Pihko H (1997). "Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation". J. Pediatr. 131 (5): 766–8. PMID 9403664.
- ↑ Jeong HK, An JH, Kim HS, Cho EA, Han MG, Moon JS, Kim HK, Kang HC (2014). "Hypoparathyroidism and subclinical hypothyroidism with secondary hemochromatosis". Endocrinol Metab (Seoul). 29 (1): 91–5. doi:10.3803/EnM.2014.29.1.91. PMC 3970271. PMID 24741460.
- ↑ Carpenter TO, Carnes DL, Anast CS (1983). "Hypoparathyroidism in Wilson's disease". N. Engl. J. Med. 309 (15): 873–7. doi:10.1056/NEJM198310133091501. PMID 6888480.