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Secondary hyperparathyroidism

MedGen UID:
9368
Concept ID:
C0020503
Disease or Syndrome
Synonyms: Hyperparathyroidism, Secondary; Hyperparathyroidisms, Secondary; Secondary Hyperparathyroidism; Secondary Hyperparathyroidisms
SNOMED CT: Secondary hyperparathyroidism (91478007)
 
HPO: HP:0000867
Monarch Initiative: MONDO:0006964

Definition

Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia. [from HPO]

Term Hierarchy

Conditions with this feature

Vitamin D-dependent rickets, type 1
MedGen UID:
124344
Concept ID:
C0268689
Disease or Syndrome
Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). There are several forms of the condition that are distinguished primarily by their genetic causes: type 1A (VDDR1A), type 1B (VDDR1B), and type 2A (VDDR2A). There is also evidence of a very rare form of the condition, called type 2B (VDDR2B), although not much is known about this form.\n\nThe signs and symptoms of vitamin D-dependent rickets begin within months after birth, and most are the same for all types of the condition. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop abnormally curved (bowed) legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the areas near the ends of bones where new bone forms (metaphyses), especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also common in this condition, and some affected individuals develop seizures.\n\nHair loss (alopecia) can occur in VDDR2A, although not everyone with this form of the condition has alopecia. Affected individuals can have sparse or patchy hair or no hair at all on their heads. Some affected individuals are missing body hair as well.\n\nIn vitamin D-dependent rickets, there is an imbalance of certain substances in the blood. An early sign in all types of the condition is low levels of the mineral calcium (hypocalcemia), which is essential for the normal formation of bones and teeth. Affected individuals also develop high levels of a hormone involved in regulating calcium levels called parathyroid hormone (PTH), which leads to a condition called secondary hyperparathyroidism. Low levels of a mineral called phosphate (hypophosphatemia) also occur in affected individuals. Vitamin D-dependent rickets types 1 and 2 can be grouped by blood levels of a hormone called calcitriol, which is the active form of vitamin D; individuals with VDDR1A and VDDR1B have abnormally low levels of calcitriol and individuals with VDDR2A and VDDR2B have abnormally high levels.
Vitamin D-dependent rickets type II with alopecia
MedGen UID:
90989
Concept ID:
C0342646
Disease or Syndrome
Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets. VDDR2B (600785) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction. For a general phenotypic description and a discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; 264700).
Craniometaphyseal dysplasia, autosomal dominant
MedGen UID:
338945
Concept ID:
C1852502
Disease or Syndrome
Autosomal dominant craniometaphyseal dysplasia (designated AD-CMD in this review) is characterized by progressive diffuse hyperostosis of cranial bones evident clinically as wide nasal bridge, paranasal bossing, widely spaced eyes with an increase in bizygomatic width, and prominent mandible. Development of dentition may be delayed and teeth may fail to erupt as a result of hyperostosis and sclerosis of alveolar bone. Progressive thickening of craniofacial bones continues throughout life, often resulting in narrowing of the cranial foramina, including the foramen magnum. If untreated, compression of cranial nerves can lead to disabling conditions such as facial palsy, blindness, or deafness (conductive and/or sensorineural hearing loss). In individuals with typical uncomplicated AD-CMD life expectancy is normal; in those with severe AD-CMD life expectancy can be reduced as a result of compression of the foramen magnum.

Professional guidelines

PubMed

Chen TK, Knicely DH, Grams ME
JAMA 2019 Oct 1;322(13):1294-1304. doi: 10.1001/jama.2019.14745. PMID: 31573641Free PMC Article
Mizobuchi M, Ogata H, Koiwa F
Ther Apher Dial 2019 Aug;23(4):309-318. Epub 2018 Dec 18 doi: 10.1111/1744-9987.12772. PMID: 30411503
Lau WL, Obi Y, Kalantar-Zadeh K
Clin J Am Soc Nephrol 2018 Jun 7;13(6):952-961. Epub 2018 Mar 9 doi: 10.2215/CJN.10390917. PMID: 29523679Free PMC Article

Recent clinical studies

Etiology

Wakamatsu T, Yamamoto S, Matsuo K, Taniguchi M, Hamano T, Fukagawa M, Kazama JJ
J Bone Miner Metab 2024 May;42(3):316-325. Epub 2024 Mar 27 doi: 10.1007/s00774-024-01500-y. PMID: 38536478
Brandenburg V, Ketteler M
Nutrients 2022 Jul 22;14(15) doi: 10.3390/nu14153009. PMID: 35893866Free PMC Article
Komaba H, Hamano T, Fujii N, Moriwaki K, Wada A, Masakane I, Nitta K, Fukagawa M
J Clin Endocrinol Metab 2022 Jun 16;107(7):2016-2025. doi: 10.1210/clinem/dgac142. PMID: 35277957
Lau WL, Obi Y, Kalantar-Zadeh K
Clin J Am Soc Nephrol 2018 Jun 7;13(6):952-961. Epub 2018 Mar 9 doi: 10.2215/CJN.10390917. PMID: 29523679Free PMC Article
Chapuy MC, Meunier PJ
Osteoporos Int 1996;6 Suppl 3:60-3. doi: 10.1007/BF01623768. PMID: 8931050

Diagnosis

Hiramitsu T, Hasegawa Y, Futamura K, Okada M, Goto N, Narumi S, Watarai Y, Tominaga Y, Ichimori T
Front Endocrinol (Lausanne) 2023;14:1169793. Epub 2023 Apr 20 doi: 10.3389/fendo.2023.1169793. PMID: 37152972Free PMC Article
Kinde B, Smith LD, Vagefi MR
Ophthalmology 2022 Apr;129(4):413. doi: 10.1016/j.ophtha.2021.10.026. PMID: 35314032
Mizobuchi M, Ogata H, Koiwa F
Ther Apher Dial 2019 Aug;23(4):309-318. Epub 2018 Dec 18 doi: 10.1111/1744-9987.12772. PMID: 30411503
Moris D, Zavvos V, Zavos G
Surgery 2017 Nov;162(5):1181-1182. Epub 2017 Jan 11 doi: 10.1016/j.surg.2016.12.006. PMID: 28088323
Jamal SA, Miller PD
J Clin Densitom 2013 Jan-Mar;16(1):64-8. Epub 2012 Dec 23 doi: 10.1016/j.jocd.2012.11.012. PMID: 23267748

Therapy

Wakamatsu T, Yamamoto S, Matsuo K, Taniguchi M, Hamano T, Fukagawa M, Kazama JJ
J Bone Miner Metab 2024 May;42(3):316-325. Epub 2024 Mar 27 doi: 10.1007/s00774-024-01500-y. PMID: 38536478
Ogata H, Fukagawa M, Hirakata H, Kagimura T, Fukushima M, Akizawa T; LANDMARK Investigators and Committees
JAMA 2021 May 18;325(19):1946-1954. doi: 10.1001/jama.2021.4807. PMID: 34003226Free PMC Article
Cardoso MP, Pereira LAL
Nefrologia (Engl Ed) 2019 Jan-Feb;39(1):18-28. Epub 2018 Sep 28 doi: 10.1016/j.nefro.2018.07.004. PMID: 30274806
Reiss AB, Miyawaki N, Moon J, Kasselman LJ, Voloshyna I, D'Avino R Jr, De Leon J
Atherosclerosis 2018 Nov;278:49-59. Epub 2018 Aug 30 doi: 10.1016/j.atherosclerosis.2018.08.046. PMID: 30253289
Jean G, Souberbielle JC, Chazot C
Nutrients 2017 Mar 25;9(4) doi: 10.3390/nu9040328. PMID: 28346348Free PMC Article

Prognosis

Ahmadmehrabi S, Tang WHW
Semin Dial 2018 May;31(3):258-267. Epub 2018 Apr 6 doi: 10.1111/sdi.12694. PMID: 29624739Free PMC Article
Moris D, Zavvos V, Zavos G
Surgery 2017 Nov;162(5):1181-1182. Epub 2017 Jan 11 doi: 10.1016/j.surg.2016.12.006. PMID: 28088323
Fraser WD
Lancet 2009 Jul 11;374(9684):145-58. doi: 10.1016/S0140-6736(09)60507-9. PMID: 19595349
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Eur Urol 1981;7(6):327-30. doi: 10.1159/000473257. PMID: 7286000

Clinical prediction guides

Wang AY, Tang TK, Yau YY, Lo WK
Am J Kidney Dis 2024 Apr;83(4):456-466.e1. Epub 2023 Nov 30 doi: 10.1053/j.ajkd.2023.10.007. PMID: 38040277
Komaba H, Hamano T, Fujii N, Moriwaki K, Wada A, Masakane I, Nitta K, Fukagawa M
J Clin Endocrinol Metab 2022 Jun 16;107(7):2016-2025. doi: 10.1210/clinem/dgac142. PMID: 35277957
Krums LM, Bykova SV, Sabelnikova EA, Aminova TV, Poleva NI, Gudkov RB, Turaeva MB, Parfenov AI
Ter Arkh 2018 Nov 22;90(10):89-93. doi: 10.26442/terarkh2018901089-93. PMID: 30701802
Lau WL, Obi Y, Kalantar-Zadeh K
Clin J Am Soc Nephrol 2018 Jun 7;13(6):952-961. Epub 2018 Mar 9 doi: 10.2215/CJN.10390917. PMID: 29523679Free PMC Article
Zingraff J, Drüeke T, Marie P, Man NK, Jungers P, Bordier P
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Recent systematic reviews

Oikonomou P, Nikolaou C, Romanidis K, Pitiakoudis M, Kesisoglou I, Sapalidis K
Folia Med (Plovdiv) 2024 Apr 30;66(2):155-160. doi: 10.3897/folmed.66.e116202. PMID: 38690809
Li X, Ding W, Zhang H
Front Endocrinol (Lausanne) 2023;14:1146955. Epub 2023 Jul 19 doi: 10.3389/fendo.2023.1146955. PMID: 37538795Free PMC Article
Zhou X, Shen Y, Zhu Y, Lv Q, Pu W, Gao L, Gu M, Li C
Int J Hyperthermia 2021;38(1):1285-1294. doi: 10.1080/02656736.2021.1965664. PMID: 34428994
Hou YC, Lu CL, Lu KC
Nephrology (Carlton) 2018 Oct;23 Suppl 4:88-94. doi: 10.1111/nep.13457. PMID: 30298663
Taieb D, Hindie E, Grassetto G, Colletti PM, Rubello D
Clin Nucl Med 2012 Jun;37(6):568-74. doi: 10.1097/RLU.0b013e318251e408. PMID: 22614188

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