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Elevated urinary coproporphyrin level

MedGen UID:
1054678
Concept ID:
CN377368
Finding
HPO: HP:6000536

Definition

The amount of a coproporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated urinary coproporphyrin level

Conditions with this feature

Hereditary coproporphyria
MedGen UID:
57931
Concept ID:
C0162531
Disease or Syndrome
Hereditary coproporphyria (HCP) is an acute (hepatic) porphyria in which the acute symptoms are neurovisceral and occur in discrete episodes. Attacks typically start in the abdomen with low-grade pain that slowly increases over a period of days (not hours) with nausea progressing to vomiting. In some individuals, the pain is predominantly in the back or extremities. When an acute attack is untreated, a motor neuropathy may develop over a period of days or a few weeks. The neuropathy first appears as weakness proximally in the arms and legs, then progresses distally to involve the hands and feet. Some individuals experience respiratory insufficiency due to loss of innervation of the diaphragm and muscles of respiration. Acute attacks are associated commonly with use of certain medications, caloric deprivation, and changes in female reproductive hormones. About 20% of those with an acute attack also experience photosensitivity associated with bullae and skin fragility.

Recent clinical studies

Etiology

Bjørklund G, Semenova Y, El-Ansary A, Al-Ayadhi LY
Curr Med Chem 2024;31(42):6911-6925. doi: 10.2174/0109298673259183231117073347. PMID: 38031776
Al-Hussaini A, Asery A, Alharbi O
Saudi J Gastroenterol 2023 May-Jun;29(3):183-190. doi: 10.4103/sjg.sjg_480_22. PMID: 37313948Free PMC Article
Ng JC, Wang JP, Zheng B, Zhai C, Maddalena R, Liu F, Moore MR
Toxicol Appl Pharmacol 2005 Aug 7;206(2):176-84. doi: 10.1016/j.taap.2004.09.021. PMID: 15967206
Kühnel A, Gross U, Doss MO
Clin Biochem 2000 Aug;33(6):465-73. doi: 10.1016/s0009-9120(00)00159-4. PMID: 11074238
Calvert GM, Sweeney MH, Fingerhut MA, Hornung RW, Halperin WE
Am J Ind Med 1994 Apr;25(4):559-71. doi: 10.1002/ajim.4700250410. PMID: 7912041

Diagnosis

Al-Hussaini A, Asery A, Alharbi O
Saudi J Gastroenterol 2023 May-Jun;29(3):183-190. doi: 10.4103/sjg.sjg_480_22. PMID: 37313948Free PMC Article
Woods JS, Armel SE, Fulton DI, Allen J, Wessels K, Simmonds PL, Granpeesheh D, Mumper E, Bradstreet JJ, Echeverria D, Heyer NJ, Rooney JP
Environ Health Perspect 2010 Oct;118(10):1450-7. Epub 2010 Jun 24 doi: 10.1289/ehp.0901713. PMID: 20576582Free PMC Article
Youn SI, Jin SH, Kim SH, Lim S
J Toxicol Environ Health A 2010;73(10):701-10. doi: 10.1080/15287391003614000. PMID: 20391113
Kühnel A, Gross U, Doss MO
Clin Biochem 2000 Aug;33(6):465-73. doi: 10.1016/s0009-9120(00)00159-4. PMID: 11074238
Frank M, Doss M, de Carvalho DG
Hepatogastroenterology 1990 Feb;37(1):147-51. PMID: 2312040

Therapy

Tolonen H, Ranta S, Hämäläinen E, Kauppinen R, Hukkanen J
Basic Clin Pharmacol Toxicol 2023 Mar;132(3):281-291. Epub 2022 Dec 26 doi: 10.1111/bcpt.13826. PMID: 36535687
Youn SI, Jin SH, Kim SH, Lim S
J Toxicol Environ Health A 2010;73(10):701-10. doi: 10.1080/15287391003614000. PMID: 20391113
Kühnel A, Gross U, Doss MO
Clin Biochem 2000 Aug;33(6):465-73. doi: 10.1016/s0009-9120(00)00159-4. PMID: 11074238
Gross U, Frank M, Doss MO
Photodermatol Photoimmunol Photomed 1998 Apr;14(2):52-7. doi: 10.1111/j.1600-0781.1998.tb00011.x. PMID: 9638724
Calvert GM, Sweeney MH, Fingerhut MA, Hornung RW, Halperin WE
Am J Ind Med 1994 Apr;25(4):559-71. doi: 10.1002/ajim.4700250410. PMID: 7912041

Prognosis

Al-Hussaini A, Asery A, Alharbi O
Saudi J Gastroenterol 2023 May-Jun;29(3):183-190. doi: 10.4103/sjg.sjg_480_22. PMID: 37313948Free PMC Article
Ng JC, Wang JP, Zheng B, Zhai C, Maddalena R, Liu F, Moore MR
Toxicol Appl Pharmacol 2005 Aug 7;206(2):176-84. doi: 10.1016/j.taap.2004.09.021. PMID: 15967206
Tutunji MF, al-Mahasneh QM
J Toxicol Clin Toxicol 1994;32(3):267-76. doi: 10.3109/15563659409017959. PMID: 8007034
Kimura A, Ushijima K, Kage M, Mahara R, Tohma M, Inokuchi T, Shibao K, Tanaka N, Fujisawa T, Ono E
Acta Paediatr Scand 1991 Mar;80(3):381-5. doi: 10.1111/j.1651-2227.1991.tb11867.x. PMID: 2035335

Clinical prediction guides

Al-Hussaini A, Asery A, Alharbi O
Saudi J Gastroenterol 2023 May-Jun;29(3):183-190. doi: 10.4103/sjg.sjg_480_22. PMID: 37313948Free PMC Article
Youn SI, Jin SH, Kim SH, Lim S
J Toxicol Environ Health A 2010;73(10):701-10. doi: 10.1080/15287391003614000. PMID: 20391113
Ng JC, Wang JP, Zheng B, Zhai C, Maddalena R, Liu F, Moore MR
Toxicol Appl Pharmacol 2005 Aug 7;206(2):176-84. doi: 10.1016/j.taap.2004.09.021. PMID: 15967206
Wang JP, Qi L, Zheng B, Liu F, Moore MR, Ng JC
Cell Mol Biol (Noisy-le-grand) 2002 Dec;48(8):835-43. PMID: 12699241
Kühnel A, Gross U, Doss MO
Clin Biochem 2000 Aug;33(6):465-73. doi: 10.1016/s0009-9120(00)00159-4. PMID: 11074238

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