U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Gout

MedGen UID:
42280
Concept ID:
C0018099
Disease or Syndrome
Synonym: Gouts
SNOMED CT: Gout (90560007); Inflammatory disorder due to increased blood urate level (90560007)
 
HPO: HP:0001997
Monarch Initiative: MONDO:0005393

Definition

Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. [from HPO]

Conditions with this feature

Glycogen storage disease, type VII
MedGen UID:
5342
Concept ID:
C0017926
Disease or Syndrome
Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.
Glucose-6-phosphate transport defect
MedGen UID:
78644
Concept ID:
C0268146
Disease or Syndrome
Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. Severely affected infants present in the neonatal period with severe hypoglycemia due to fasting intolerance. More commonly, untreated infants present at age three to four months with hepatomegaly, severe hypoglycemia with or without seizures, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Affected children typically have doll-like faces with full cheeks, relatively thin extremities, short stature, and a protuberant abdomen. Xanthoma and diarrhea may be present. Impaired platelet function and development of reduced or dysfunctional von Willebrand factor can lead to a bleeding tendency with frequent epistaxis and menorrhagia in females. Individuals with untreated GSDIb are more likely to develop impaired neutrophil and monocyte function as well as chronic neutropenia resulting in recurrent bacterial infections, gingivitis, periodontitis, and genital and intestinal ulcers. Long-term complications of untreated GSDI include short stature, osteoporosis, delayed puberty, renal disease (including proximal and distal renal tubular acidosis, renal stones, and renal failure), gout, systemic hypertension, pulmonary hypertension, hepatic adenomas with potential for malignancy, pancreatitis, and polycystic ovaries. Seizures and cognitive impairment may occur in individuals with prolonged periods of hypoglycemia. Normal growth and puberty are expected in treated children. Most affected individuals live into adulthood.
Phosphate transport defect
MedGen UID:
87455
Concept ID:
C0342749
Disease or Syndrome
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).
Renal cysts and diabetes syndrome
MedGen UID:
96569
Concept ID:
C0431693
Disease or Syndrome
The 17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder, schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85% to 90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years).
Glycoprotein storage disease
MedGen UID:
343516
Concept ID:
C1856275
Disease or Syndrome
Tubulointerstitial kidney disease, autosomal dominant, 2
MedGen UID:
358137
Concept ID:
C1868139
Disease or Syndrome
Autosomal dominant tubulointerstitial kidney disease – MUC1 (ADTKD-MUC1) is characterized by slowly progressive tubulointerstitial disease that leads to end-stage renal disease (ESRD) and the need for dialysis or kidney transplantation. The rate of loss of kidney function for individuals is variable within and between families, with a median age of onset of end-stage renal disease (ESRD) of 46 years (range: ages 20-70 years). There are no other systemic manifestations.
Coronary artery disease, autosomal dominant 2
MedGen UID:
370259
Concept ID:
C1970440
Disease or Syndrome
Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene.
Phosphoribosylpyrophosphate synthetase superactivity
MedGen UID:
370358
Concept ID:
C1970827
Disease or Syndrome
Phosphoribosylpyrophosphate synthetase (PRS) superactivity comprises two phenotypes, both characterized by hyperuricemia and hyperuricosuria. The mild phenotype (~75% of affected males) with onset in the second or third decade of life is typically limited to these biochemical findings, whereas the severe phenotype (~25% of affected males) with onset in the first decade of life has in addition to these biochemical findings variable combinations of developmental delay (DD) / intellectual disability (ID), sensorineural hearing loss, hypotonia, and ataxia. In the mild phenotype, uric acid crystalluria or a urinary stone is commonly the first clinical finding, followed later by gouty arthritis if serum urate concentration is not controlled.
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
MedGen UID:
415885
Concept ID:
C2919796
Disease or Syndrome
Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. Severely affected infants present in the neonatal period with severe hypoglycemia due to fasting intolerance. More commonly, untreated infants present at age three to four months with hepatomegaly, severe hypoglycemia with or without seizures, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Affected children typically have doll-like faces with full cheeks, relatively thin extremities, short stature, and a protuberant abdomen. Xanthoma and diarrhea may be present. Impaired platelet function and development of reduced or dysfunctional von Willebrand factor can lead to a bleeding tendency with frequent epistaxis and menorrhagia in females. Individuals with untreated GSDIb are more likely to develop impaired neutrophil and monocyte function as well as chronic neutropenia resulting in recurrent bacterial infections, gingivitis, periodontitis, and genital and intestinal ulcers. Long-term complications of untreated GSDI include short stature, osteoporosis, delayed puberty, renal disease (including proximal and distal renal tubular acidosis, renal stones, and renal failure), gout, systemic hypertension, pulmonary hypertension, hepatic adenomas with potential for malignancy, pancreatitis, and polycystic ovaries. Seizures and cognitive impairment may occur in individuals with prolonged periods of hypoglycemia. Normal growth and puberty are expected in treated children. Most affected individuals live into adulthood.
Hyperuricemic nephropathy, familial juvenile type 4
MedGen UID:
934708
Concept ID:
C4310741
Disease or Syndrome
Autosomal dominant tubulointerstitial kidney disease-5 (ADTKD5) is characterized by the onset of progressive chronic renal disease in the first decades of life. Mild hyperuricemia may be present, but gout, hypertension, and proteinuria are usually absent. The disease may be associated with anemia or neutropenia. Some patients may have additional findings, including poor overall growth and impaired cognitive function. Renal biopsy shows tubulointerstitial abnormalities with atrophic tubules and fibrosis; secondary glomerular abnormalities and simple cysts may also be present (summary by Bolar et al., 2016). For a discussion of genetic heterogeneity and revised nomenclature of ADTKD, see ADTKD1 (162000).
Familial juvenile hyperuricemic nephropathy type 1
MedGen UID:
1645893
Concept ID:
C4551496
Disease or Syndrome
Autosomal dominant tubulointerstitial kidney disease – UMOD (ADTKD-UMOD) is characterized by normal urinalysis and slowly progressive chronic kidney disease (CKD), usually first noted in the teen years and progressing to end-stage renal disease (ESRD) between the third and seventh decades. Hyperuricemia is often present from an early age, and gout (resulting from reduced kidney excretion of uric acid) occurs in the teenage years in about 8% of affected individuals and develops in 55% of affected individuals over time.
Polycystic kidney disease 6 with or without polycystic liver disease
MedGen UID:
1648469
Concept ID:
C4748044
Disease or Syndrome
Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased risk of intracranial aneurysms. Other manifestations include: cysts in the pancreas, seminal vesicles, and arachnoid membrane; dilatation of the aortic root and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Kidney manifestations include early-onset hypertension, kidney pain, and kidney insufficiency. Approximately 50% of individuals with ADPKD have end-stage kidney disease (ESKD) by age 60 years. The prevalence of liver cysts increases with age and occasionally results in clinically significant severe polycystic liver disease (PLD), most often in females. Overall, the prevalence of intracranial aneurysms is fivefold higher than in the general population and further increased in those with a positive family history of aneurysms or subarachnoid hemorrhage. There is substantial variability in the severity of kidney disease and other extra-kidney manifestations.

Professional guidelines

PubMed

Zhang Y, Chen S, Yuan M, Xu Y, Xu H
Nutrients 2022 Aug 26;14(17) doi: 10.3390/nu14173525. PMID: 36079783Free PMC Article
FitzGerald JD, Dalbeth N, Mikuls T, Brignardello-Petersen R, Guyatt G, Abeles AM, Gelber AC, Harrold LR, Khanna D, King C, Levy G, Libbey C, Mount D, Pillinger MH, Rosenthal A, Singh JA, Sims JE, Smith BJ, Wenger NS, Bae SS, Danve A, Khanna PP, Kim SC, Lenert A, Poon S, Qasim A, Sehra ST, Sharma TSK, Toprover M, Turgunbaev M, Zeng L, Zhang MA, Turner AS, Neogi T
Arthritis Care Res (Hoboken) 2020 Jun;72(6):744-760. Epub 2020 May 11 doi: 10.1002/acr.24180. PMID: 32391934Free PMC Article
Cranendonk DR, Lavrijsen APM, Prins JM, Wiersinga WJ
Neth J Med 2017 Nov;75(9):366-378. PMID: 29219814

Curated

UK NICE Guideline NG219, Gout: diagnosis and management, 2022

Recent clinical studies

Etiology

Afinogenova Y, Danve A, Neogi T
Curr Opin Rheumatol 2022 Mar 1;34(2):118-124. doi: 10.1097/BOR.0000000000000861. PMID: 34907116Free PMC Article
Dalbeth N, Gosling AL, Gaffo A, Abhishek A
Lancet 2021 May 15;397(10287):1843-1855. Epub 2021 Mar 30 doi: 10.1016/S0140-6736(21)00569-9. PMID: 33798500
Singh JA, Gaffo A
Semin Arthritis Rheum 2020 Jun;50(3S):S11-S16. doi: 10.1016/j.semarthrit.2020.04.008. PMID: 32620196
Dalbeth N, Choi HK, Joosten LAB, Khanna PP, Matsuo H, Perez-Ruiz F, Stamp LK
Nat Rev Dis Primers 2019 Sep 26;5(1):69. doi: 10.1038/s41572-019-0115-y. PMID: 31558729
Dalbeth N, Merriman TR, Stamp LK
Lancet 2016 Oct 22;388(10055):2039-2052. Epub 2016 Apr 21 doi: 10.1016/S0140-6736(16)00346-9. PMID: 27112094

Diagnosis

Wu X, You C
PeerJ 2023;11:e14554. Epub 2023 Jan 6 doi: 10.7717/peerj.14554. PMID: 36632144Free PMC Article
Ashiq K, Bajwa MA, Tanveer S, Qayyum M, Ashiq S, Khokhar R, Abid F
J Pak Med Assoc 2021 Apr;71(4):1234-1238. doi: 10.47391/JPMA.313. PMID: 34125777
Dalbeth N, Gosling AL, Gaffo A, Abhishek A
Lancet 2021 May 15;397(10287):1843-1855. Epub 2021 Mar 30 doi: 10.1016/S0140-6736(21)00569-9. PMID: 33798500
Sivera F, Andrés M, Quilis N
Med Clin (Barc) 2017 Mar 22;148(6):271-276. Epub 2016 Dec 5 doi: 10.1016/j.medcli.2016.10.019. PMID: 27931865
Dalbeth N, Merriman TR, Stamp LK
Lancet 2016 Oct 22;388(10055):2039-2052. Epub 2016 Apr 21 doi: 10.1016/S0140-6736(16)00346-9. PMID: 27112094

Therapy

Zeng L, Yang T, Yang K, Yu G, Li J, Xiang W, Chen H
Front Immunol 2022;13:891822. Epub 2022 Jul 22 doi: 10.3389/fimmu.2022.891822. PMID: 35935936Free PMC Article
Parperis K, Papachristodoulou E, Kakoullis L, Rosenthal AK
Semin Arthritis Rheum 2021 Feb;51(1):84-94. Epub 2020 Dec 21 doi: 10.1016/j.semarthrit.2020.10.005. PMID: 33360232
Sanchez-Lozada LG, Rodriguez-Iturbe B, Kelley EE, Nakagawa T, Madero M, Feig DI, Borghi C, Piani F, Cara-Fuentes G, Bjornstad P, Lanaspa MA, Johnson RJ
Am J Hypertens 2020 Jul 18;33(7):583-594. doi: 10.1093/ajh/hpaa044. PMID: 32179896Free PMC Article
Tardif JC, Kouz S, Waters DD, Bertrand OF, Diaz R, Maggioni AP, Pinto FJ, Ibrahim R, Gamra H, Kiwan GS, Berry C, López-Sendón J, Ostadal P, Koenig W, Angoulvant D, Grégoire JC, Lavoie MA, Dubé MP, Rhainds D, Provencher M, Blondeau L, Orfanos A, L'Allier PL, Guertin MC, Roubille F
N Engl J Med 2019 Dec 26;381(26):2497-2505. Epub 2019 Nov 16 doi: 10.1056/NEJMoa1912388. PMID: 31733140
Montalban X, Hauser SL, Kappos L, Arnold DL, Bar-Or A, Comi G, de Seze J, Giovannoni G, Hartung HP, Hemmer B, Lublin F, Rammohan KW, Selmaj K, Traboulsee A, Sauter A, Masterman D, Fontoura P, Belachew S, Garren H, Mairon N, Chin P, Wolinsky JS; ORATORIO Clinical Investigators
N Engl J Med 2017 Jan 19;376(3):209-220. Epub 2016 Dec 21 doi: 10.1056/NEJMoa1606468. PMID: 28002688

Prognosis

Singh JA, Gaffo A
Semin Arthritis Rheum 2020 Jun;50(3S):S11-S16. doi: 10.1016/j.semarthrit.2020.04.008. PMID: 32620196
Dehlin M, Jacobsson L, Roddy E
Nat Rev Rheumatol 2020 Jul;16(7):380-390. Epub 2020 Jun 15 doi: 10.1038/s41584-020-0441-1. PMID: 32541923
GBD Chronic Kidney Disease Collaboration
Lancet 2020 Feb 29;395(10225):709-733. Epub 2020 Feb 13 doi: 10.1016/S0140-6736(20)30045-3. PMID: 32061315Free PMC Article
GBD 2016 Disease and Injury Incidence and Prevalence Collaborators
Lancet 2017 Sep 16;390(10100):1211-1259. doi: 10.1016/S0140-6736(17)32154-2. PMID: 28919117Free PMC Article
Dalbeth N, Merriman TR, Stamp LK
Lancet 2016 Oct 22;388(10055):2039-2052. Epub 2016 Apr 21 doi: 10.1016/S0140-6736(16)00346-9. PMID: 27112094

Clinical prediction guides

McCormick N, Yokose C, Wei J, Lu N, Wexler DJ, Aviña-Zubieta JA, De Vera MA, Zhang Y, Choi HK
Ann Intern Med 2023 Aug;176(8):1067-1080. Epub 2023 Jul 25 doi: 10.7326/M23-0724. PMID: 37487215
Zeng Z, Jin T, Ni J, Huang L, Xie Y, He W, Zhang L, Ding C, Cen H
Semin Arthritis Rheum 2022 Dec;57:152095. Epub 2022 Sep 9 doi: 10.1016/j.semarthrit.2022.152095. PMID: 36126568
Latourte A, Dumurgier J, Paquet C, Richette P
Curr Rheumatol Rep 2021 Dec 30;23(12):82. doi: 10.1007/s11926-021-01050-6. PMID: 34971414
McCormick N, O'Connor MJ, Yokose C, Merriman TR, Mount DB, Leong A, Choi HK
Arthritis Rheumatol 2021 Nov;73(11):2096-2104. Epub 2021 Sep 26 doi: 10.1002/art.41779. PMID: 33982892Free PMC Article
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes
Kidney Int 2015 Oct;88(4):676-83. Epub 2015 Mar 4 doi: 10.1038/ki.2015.28. PMID: 25738250

Recent systematic reviews

Zeng L, Yang T, Yang K, Yu G, Li J, Xiang W, Chen H
Front Immunol 2022;13:891822. Epub 2022 Jul 22 doi: 10.3389/fimmu.2022.891822. PMID: 35935936Free PMC Article
Li Q, Li X, Wang J, Liu H, Kwong JS, Chen H, Li L, Chung SC, Shah A, Chen Y, An Z, Sun X, Hemingway H, Tian H, Li S
BMJ Open 2019 Aug 24;9(8):e026677. doi: 10.1136/bmjopen-2018-026677. PMID: 31446403Free PMC Article
Li R, Yu K, Li C
Asia Pac J Clin Nutr 2018;27(6):1344-1356. doi: 10.6133/apjcn.201811_27(6).0022. PMID: 30485934
Richette P, Doherty M, Pascual E, Barskova V, Becce F, Castañeda-Sanabria J, Coyfish M, Guillo S, Jansen TL, Janssens H, Lioté F, Mallen C, Nuki G, Perez-Ruiz F, Pimentao J, Punzi L, Pywell T, So A, Tausche AK, Uhlig T, Zavada J, Zhang W, Tubach F, Bardin T
Ann Rheum Dis 2017 Jan;76(1):29-42. Epub 2016 Jul 25 doi: 10.1136/annrheumdis-2016-209707. PMID: 27457514
Singh JA, Reddy SG, Kundukulam J
Curr Opin Rheumatol 2011 Mar;23(2):192-202. doi: 10.1097/BOR.0b013e3283438e13. PMID: 21285714Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2022
      UK NICE Guideline NG219, Gout: diagnosis and management, 2022

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...