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Dark urine

MedGen UID:
604849
Concept ID:
C0426396
Finding
Synonym: Urine looks dark
SNOMED CT: Urine looks dark (39575007)
 
HPO: HP:0040319

Definition

An abnormal dark color of the urine. [from HPO]

Conditions with this feature

Alkaptonuria
MedGen UID:
1413
Concept ID:
C0002066
Disease or Syndrome
Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. The three major features of alkaptonuria are dark urine or urine that turns dark on standing, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. Ochronosis generally occurs after age 30 years; arthritis often begins in the third decade. Other manifestations can include pigment in the sclera, ear cartilage, and skin of the hands; aortic or mitral valve calcification or regurgitation and occasionally aortic dilatation; renal stones; prostate stones; and hypothyroidism.
Glycogen storage disease, type V
MedGen UID:
5341
Concept ID:
C0017924
Disease or Syndrome
Glycogen storage disease type V (GSDV, McArdle disease) is a metabolic myopathy characterized by exercise intolerance manifested by rapid fatigue, myalgia, and cramps in exercising muscles. Symptoms are usually precipitated by isometric exercise or sustained aerobic exercise. Most individuals improve their exercise tolerance by exploiting the "second-wind" phenomenon with relief of myalgia and fatigue after a few minutes of rest. Age of onset is frequently in the first decade of life but can vary; however, diagnosis is typically delayed as myalgia and fatigability are dismissed/overlooked. Fixed muscle weakness occurs in approximately 25% of affected individuals, is more likely to involve proximal muscles, and is more common in individuals of advanced age. Approximately 50% of affected individuals have recurrent episodes of myoglobinuria that can – on occasion – eventually result in acute renal failure.
X-linked congenital hemolytic anemia
MedGen UID:
1648376
Concept ID:
C4746970
Disease or Syndrome
Biliary, renal, neurologic, and skeletal syndrome
MedGen UID:
1794200
Concept ID:
C5561990
Disease or Syndrome
Biliary, renal, neurologic, and skeletal syndrome (BRENS) is an autosomal recessive complex ciliopathy with multisystemic manifestations. The most common presentation is severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis. Most patients have additional clinical features suggestive of a ciliopathy, including postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features of the syndrome may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development (summary by Shaheen et al., 2020 and David et al., 2020).

Professional guidelines

PubMed

Cervellin G, Comelli I, Benatti M, Sanchis-Gomar F, Bassi A, Lippi G
Clin Biochem 2017 Aug;50(12):656-662. Epub 2017 Feb 21 doi: 10.1016/j.clinbiochem.2017.02.016. PMID: 28235546
Keane MG, Pereira SP
Practitioner 2013 Jul-Aug;257(1763):21-6, 2-3. PMID: 24191431
Rerknimitr R, Angsuwatcharakon P, Ratanachu-ek T, Khor CJ, Ponnudurai R, Moon JH, Seo DW, Pantongrag-Brown L, Sangchan A, Pisespongsa P, Akaraviputh T, Reddy ND, Maydeo A, Itoi T, Pausawasdi N, Punamiya S, Attasaranya S, Devereaux B, Ramchandani M, Goh KL; Asia-Pacific Working Group on Hepatobiliary Cancers
J Gastroenterol Hepatol 2013 Apr;28(4):593-607. doi: 10.1111/jgh.12128. PMID: 23350673

Recent clinical studies

Etiology

Hendrickson JE, Fasano RM
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):704-709. doi: 10.1182/hematology.2021000308. PMID: 34889404Free PMC Article
Langan RC, Goodbred AJ
Am Fam Physician 2021 Oct 1;104(4):368-374. PMID: 34652109
Gupta A, Thorson P, Penmatsa KR, Gupta P
Ulster Med J 2021 May;90(2):61-69. Epub 2021 Jul 8 PMID: 34276082Free PMC Article
Woeber KA
Endocr Pract 2002 May-Jun;8(3):222-4. doi: 10.4158/EP.8.3.222. PMID: 12467281
McKiernan PJ
Semin Neonatol 2002 Apr;7(2):153-65. doi: 10.1053/siny.2002.0103. PMID: 12208100

Diagnosis

Bernardini G, Braconi D, Zatkova A, Sireau N, Kujawa MJ, Introne WJ, Spiga O, Geminiani M, Gallagher JA, Ranganath LR, Santucci A
Nat Rev Dis Primers 2024 Mar 7;10(1):16. doi: 10.1038/s41572-024-00498-x. PMID: 38453957
Baeza-Trinidad R
Med Clin (Barc) 2022 Mar 25;158(6):277-283. Epub 2021 Dec 3 doi: 10.1016/j.medcli.2021.09.025. PMID: 34872769
Langan RC, Goodbred AJ
Am Fam Physician 2021 Oct 1;104(4):368-374. PMID: 34652109
Gupta A, Thorson P, Penmatsa KR, Gupta P
Ulster Med J 2021 May;90(2):61-69. Epub 2021 Jul 8 PMID: 34276082Free PMC Article
Mieli-Vergani G, Vergani D
Semin Immunopathol 2009 Sep;31(3):371-81. Epub 2009 Jun 17 doi: 10.1007/s00281-009-0171-6. PMID: 19533128

Therapy

Baeza-Trinidad R
Med Clin (Barc) 2022 Mar 25;158(6):277-283. Epub 2021 Dec 3 doi: 10.1016/j.medcli.2021.09.025. PMID: 34872769
Hendrickson JE, Fasano RM
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):704-709. doi: 10.1182/hematology.2021000308. PMID: 34889404Free PMC Article
Langan RC, Goodbred AJ
Am Fam Physician 2021 Oct 1;104(4):368-374. PMID: 34652109
Ambapkar SN, Shetty N, Dwivedy A
J Assoc Physicians India 2016 Jul;64(7):93-94. PMID: 27759359
Woeber KA
Endocr Pract 2002 May-Jun;8(3):222-4. doi: 10.4158/EP.8.3.222. PMID: 12467281

Prognosis

Baeza-Trinidad R
Med Clin (Barc) 2022 Mar 25;158(6):277-283. Epub 2021 Dec 3 doi: 10.1016/j.medcli.2021.09.025. PMID: 34872769
Mieli-Vergani G, Vergani D
Semin Immunopathol 2009 Sep;31(3):371-81. Epub 2009 Jun 17 doi: 10.1007/s00281-009-0171-6. PMID: 19533128
Venigalla S, Gourley GR
Semin Perinatol 2004 Oct;28(5):348-55. doi: 10.1053/j.semperi.2004.09.008. PMID: 15686266
McKiernan PJ
Semin Neonatol 2002 Apr;7(2):153-65. doi: 10.1053/siny.2002.0103. PMID: 12208100
Neuberger J
Baillieres Clin Gastroenterol 1989 Apr;3(2):447-66. doi: 10.1016/0950-3528(89)90010-9. PMID: 2655764

Clinical prediction guides

Sun K, Shi Z, Abudureheman Y, Liu Q, Zhao Y, Zhang X, Lv Q, Zhang Y, Shou S, Jin H
Int J Clin Pract 2023;2023:6396576. Epub 2023 Sep 29 doi: 10.1155/2023/6396576. PMID: 37808625Free PMC Article
Bittaye SO, Kambi A, Tekanyi MAI, Tamba S, Sanneh L, Sisawo MM, Jatta A, Fatty G, Jeng A, Jallow MS, Leigh O, Njie R
BMC Gastroenterol 2023 Sep 20;23(1):321. doi: 10.1186/s12876-023-02952-8. PMID: 37730538Free PMC Article
Masuda Y, Wam R, Paik B, Ngoh C, Choong AM, Ng JJ
Phys Sportsmed 2023 Aug;51(4):294-305. Epub 2022 Mar 10 doi: 10.1080/00913847.2022.2049645. PMID: 35254210
Kisa PT, Gunduz M, Dorum S, Uzun OU, Cakar NE, Yildirim GK, Erdol S, Hismi BO, Tugsal HY, Ucar U, Gorukmez O, Gulten ZA, Kucukcongar A, Bulbul S, Sari I, Arslan N
Eur J Med Genet 2021 May;64(5):104197. Epub 2021 Mar 18 doi: 10.1016/j.ejmg.2021.104197. PMID: 33746036
Esteve-Valverde E, Tapiz-Reula A, Ruiz D, Alijotas-Reig J
Rheumatol Int 2020 May;40(5):777-783. Epub 2019 Dec 21 doi: 10.1007/s00296-019-04500-8. PMID: 31865445

Recent systematic reviews

Bäcker HC, Richards JT, Kienzle A, Cunningham J, Braun KF
Clin J Sport Med 2023 Mar 1;33(2):187-194. Epub 2022 Oct 20 doi: 10.1097/JSM.0000000000001082. PMID: 36877581
Masuda Y, Wam R, Paik B, Ngoh C, Choong AM, Ng JJ
Phys Sportsmed 2023 Aug;51(4):294-305. Epub 2022 Mar 10 doi: 10.1080/00913847.2022.2049645. PMID: 35254210
Bataillard M, Beyens MN, Mounier G, Vergnon-Miszczycha D, Bagheri H, Cathebras P
Am J Ther 2019 May/Jun;26(3):e375-e379. doi: 10.1097/MJT.0000000000000679. PMID: 29189310

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