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Elevated plasma pyrophosphate

MedGen UID:
868752
Concept ID:
C4023157
Finding
HPO: HP:0011864

Definition

An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated plasma pyrophosphate

Conditions with this feature

Childhood hypophosphatasia
MedGen UID:
65089
Concept ID:
C0220743
Congenital Abnormality
Hypophosphatasia is characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. While the disease spectrum is a continuum, seven clinical forms of hypophosphatasia are usually recognized based on age at diagnosis and severity of features: Perinatal (severe): characterized by pulmonary insufficiency and hypercalcemia. Perinatal (benign): prenatal skeletal manifestations that slowly resolve into one of the milder forms. Infantile: onset between birth and age six months of clinical features of rickets without elevated serum alkaline phosphatase activity. Severe childhood (juvenile): variable presenting features progressing to rickets. Mild childhood: low bone mineral density for age, increased risk of fracture, and premature loss of primary teeth with intact roots. Adult: characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition. Odontohypophosphatasia: characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations.
Infantile hypophosphatasia
MedGen UID:
75677
Concept ID:
C0268412
Disease or Syndrome
Hypophosphatasia is characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. While the disease spectrum is a continuum, seven clinical forms of hypophosphatasia are usually recognized based on age at diagnosis and severity of features: Perinatal (severe): characterized by pulmonary insufficiency and hypercalcemia. Perinatal (benign): prenatal skeletal manifestations that slowly resolve into one of the milder forms. Infantile: onset between birth and age six months of clinical features of rickets without elevated serum alkaline phosphatase activity. Severe childhood (juvenile): variable presenting features progressing to rickets. Mild childhood: low bone mineral density for age, increased risk of fracture, and premature loss of primary teeth with intact roots. Adult: characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition. Odontohypophosphatasia: characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations.

Professional guidelines

PubMed

Roberts R, Kleiman NS
Circulation 1994 Feb;89(2):872-81. doi: 10.1161/01.cir.89.2.872. PMID: 8313577
Klein MS, Coleman RE, Weldon CS, Sobel BE, Roberts R
J Thorac Cardiovasc Surg 1976 Jun;71(6):934-7. PMID: 178964

Recent clinical studies

Etiology

Whyte MP, Coburn SP, Ryan LM, Ericson KL, Zhang F
Bone 2018 May;110:96-106. Epub 2018 Jan 31 doi: 10.1016/j.bone.2018.01.022. PMID: 29360619
Moritoh Y, Oka M, Yasuhara Y, Hozumi H, Iwachidow K, Fuse H, Tozawa R
Sci Rep 2016 Aug 31;6:32072. doi: 10.1038/srep32072. PMID: 27577108Free PMC Article
Porter SG, Coats D, Fischer PR, Ou K, Frank EL, Sreang P, Saing S, Topazian MD, Enders FT, Cabalka AK
J Pediatr 2014 Jun;164(6):1456-61. Epub 2014 Mar 5 doi: 10.1016/j.jpeds.2014.01.049. PMID: 24607240
Abhishek A, Doherty M
Nat Rev Rheumatol 2011 Feb;7(2):96-104. Epub 2010 Nov 23 doi: 10.1038/nrrheum.2010.182. PMID: 21102543
Reaney SH, Kwik-Uribe CL, Smith DR
Chem Res Toxicol 2002 Sep;15(9):1119-26. doi: 10.1021/tx025525e. PMID: 12230404

Diagnosis

Whyte MP, Zhang F, Wenkert D, Mack KE, Bijanki VN, Ericson KL, Coburn SP
Bone 2022 Jan;154:116204. Epub 2021 Sep 20 doi: 10.1016/j.bone.2021.116204. PMID: 34547524
Whyte MP, Coburn SP, Ryan LM, Ericson KL, Zhang F
Bone 2018 May;110:96-106. Epub 2018 Jan 31 doi: 10.1016/j.bone.2018.01.022. PMID: 29360619
Porter SG, Coats D, Fischer PR, Ou K, Frank EL, Sreang P, Saing S, Topazian MD, Enders FT, Cabalka AK
J Pediatr 2014 Jun;164(6):1456-61. Epub 2014 Mar 5 doi: 10.1016/j.jpeds.2014.01.049. PMID: 24607240
Roberts R, Kleiman NS
Circulation 1994 Feb;89(2):872-81. doi: 10.1161/01.cir.89.2.872. PMID: 8313577
Sorensen E, Flodgaard H
Acta Med Scand 1975 May;197(5):357-60. doi: 10.1111/j.0954-6820.1975.tb04934.x. PMID: 167553

Therapy

Hortells L, Sosa C, Guillén N, Lucea S, Millán Á, Sorribas V
Kidney Int 2017 Dec;92(6):1384-1394. Epub 2017 Aug 23 doi: 10.1016/j.kint.2017.06.019. PMID: 28844316
Porter SG, Coats D, Fischer PR, Ou K, Frank EL, Sreang P, Saing S, Topazian MD, Enders FT, Cabalka AK
J Pediatr 2014 Jun;164(6):1456-61. Epub 2014 Mar 5 doi: 10.1016/j.jpeds.2014.01.049. PMID: 24607240
Abhishek A, Doherty M
Nat Rev Rheumatol 2011 Feb;7(2):96-104. Epub 2010 Nov 23 doi: 10.1038/nrrheum.2010.182. PMID: 21102543
Hargreaves IP
Mitochondrion 2007 Jun;7 Suppl:S175-80. Epub 2007 Mar 16 doi: 10.1016/j.mito.2007.02.009. PMID: 17442628
Sorensen E, Flodgaard H
Acta Med Scand 1975 May;197(5):357-60. doi: 10.1111/j.0954-6820.1975.tb04934.x. PMID: 167553

Prognosis

Zhao X, Zhu X, Wang L, Chen Y, Chen R, Zheng Z, Yang H, Xia W, Yao J, Zhao K
Lab Med 2023 Jul 5;54(4):411-423. doi: 10.1093/labmed/lmac125. PMID: 36355716
Zeng Y, Poterucha TJ, Einstein AJ, Zhang Q, Chen Y, Xie H, Wan K, Liang Y, Chen J, Tang G
Medicine (Baltimore) 2021 Apr 30;100(17):e25582. doi: 10.1097/MD.0000000000025582. PMID: 33907108Free PMC Article
Porter SG, Coats D, Fischer PR, Ou K, Frank EL, Sreang P, Saing S, Topazian MD, Enders FT, Cabalka AK
J Pediatr 2014 Jun;164(6):1456-61. Epub 2014 Mar 5 doi: 10.1016/j.jpeds.2014.01.049. PMID: 24607240
Tolouian R, Connery SM, O'Neill WC, Gupta A
Clin Lab 2012;58(11-12):1129-34. PMID: 23289181Free PMC Article
Baumgartner-Sigl S, Haberlandt E, Mumm S, Scholl-Bürgi S, Sergi C, Ryan L, Ericson KL, Whyte MP, Högler W
Bone 2007 Jun;40(6):1655-61. Epub 2007 Feb 14 doi: 10.1016/j.bone.2007.01.020. PMID: 17395561

Clinical prediction guides

Whyte MP, Zhang F, Mack KE, Wenkert D, Gottesman GS, Ericson KL, Cole JT, Coburn SP
Bone 2024 Apr;181:117033. Epub 2024 Feb 1 doi: 10.1016/j.bone.2024.117033. PMID: 38307176
Kinoshita Y, Mohamed FF, Amadeu de Oliveira F, Narisawa S, Miyake K, Foster BL, Millán JL
J Bone Miner Res 2021 Sep;36(9):1835-1849. Epub 2021 Jun 15 doi: 10.1002/jbmr.4382. PMID: 34076297Free PMC Article
Oheim R, Zimmerman K, Maulding ND, Stürznickel J, von Kroge S, Kavanagh D, Stabach PR, Kornak U, Tommasini SM, Horowitz MC, Amling M, Thompson D, Schinke T, Busse B, Carpenter TO, Braddock DT
J Bone Miner Res 2020 Mar;35(3):528-539. Epub 2019 Dec 5 doi: 10.1002/jbmr.3911. PMID: 31805212Free PMC Article
Hortells L, Sosa C, Guillén N, Lucea S, Millán Á, Sorribas V
Kidney Int 2017 Dec;92(6):1384-1394. Epub 2017 Aug 23 doi: 10.1016/j.kint.2017.06.019. PMID: 28844316
Moritoh Y, Oka M, Yasuhara Y, Hozumi H, Iwachidow K, Fuse H, Tozawa R
Sci Rep 2016 Aug 31;6:32072. doi: 10.1038/srep32072. PMID: 27577108Free PMC Article

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