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Hyperuricosuria

MedGen UID:
182691
Concept ID:
C0948643
Finding
Synonyms: High urine uric acid level
 
HPO: HP:0003149

Definition

An abnormally high level of uric acid in the urine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperuricosuria

Conditions with this feature

Hereditary fructosuria
MedGen UID:
42105
Concept ID:
C0016751
Disease or Syndrome
Following dietary exposure to fructose, sucrose, or sorbitol, untreated hereditary fructose intolerance (HFI) is characterized by metabolic disturbances (hypoglycemia, lactic acidemia, hypophosphatemia, hyperuricemia, hypermagnesemia, hyperalaninemia) and clinical findings (nausea, vomiting, and abdominal distress; chronic growth restriction/failure to thrive). Untreated HFI typically first manifests when fructose- and sucrose-containing foods are introduced in the course of weaning young infants from breast milk. If large quantities of fructose are ingested, the infant may acutely develop lethargy, seizures, and/or progressive coma. Untreated HFI may result in renal and hepatic failure. If identified and treated before permanent organ injury occurs, individuals with HFI can experience a normal quality of life and life expectancy.
Lesch-Nyhan syndrome
MedGen UID:
9721
Concept ID:
C0023374
Disease or Syndrome
Lesch-Nyhan syndrome is characterized by motor dysfunction that resembles cerebral palsy, cognitive and behavioral disturbances, and uric acid overproduction (hyperuricemia). The most common presenting features, hypotonia and developmental delay, are evident by age three to six months. Affected children are delayed in sitting and most never walk. Within the first few years, extrapyramidal involvement (e.g., dystonia, choreoathetosis, opisthotonos) and pyramidal involvement (e.g., spasticity, hyperreflexia, extensor plantar reflexes) become evident. Cognitive impairment and behavioral disturbances emerge between ages two and three years. Persistent self-injurious behavior (biting the fingers, hands, lips, and cheeks; banging the head or limbs) is a hallmark of the disease. Overproduction of uric acid may lead to deposition of uric acid crystals or calculi in the kidneys, ureters, or bladder. Gouty arthritis may occur later in the disease. Related disorders with less severe manifestations include hyperuricemia with neurologic dysfunction but no self-injurious behavior and hyperuricemia alone, sometimes with acute renal failure.
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
MedGen UID:
82770
Concept ID:
C0268117
Disease or Syndrome
Virtually complete deficiency of HPRT residual activity is associated with the Lesch-Nyhan syndrome (LNS; 300322), whereas partial deficiency (at least 8%) is associated with the Kelley-Seegmiller syndrome. LNS is characterized by abnormal metabolic and neurologic manifestations. In contrast, Kelley-Seegmiller syndrome is usually associated only with the clinical manifestations of excessive purine production. Renal stones, uric acid nephropathy, and renal obstruction are often the presenting symptoms of Kelley-Seegmiller syndrome, but rarely of LNS. After puberty, the hyperuricemia in Kelley-Seegmiller syndrome may cause gout (summary by Zoref-Shani et al., 2000).
Phosphoribosylpyrophosphate synthetase superactivity
MedGen UID:
370358
Concept ID:
C1970827
Disease or Syndrome
Phosphoribosylpyrophosphate synthetase (PRS) superactivity is characterized by hyperuricemia and hyperuricosuria and is divided into a severe phenotype with infantile or early-childhood onset and a milder phenotype with late-juvenile or early-adult onset. Variable combinations of sensorineural hearing loss, hypotonia, and ataxia observed in the severe type are not usually present in the mild type. In the mild type, 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.

Recent clinical studies

Etiology

Purandare AV, Broom MA
Clin Pediatr (Phila) 2015 Aug;54(9):897-9. Epub 2014 Sep 19 doi: 10.1177/0009922814551136. PMID: 25238778
Mehta TH, Goldfarb DS
Adv Chronic Kidney Dis 2012 Nov;19(6):413-8. doi: 10.1053/j.ackd.2012.07.014. PMID: 23089277
Akl K, Ghawanmeh R
Saudi J Kidney Dis Transpl 2012 Sep;23(5):979-84. doi: 10.4103/1319-2442.100879. PMID: 22982910
Polito C, La Manna A, Signoriello G, Lama G
J Pediatr Urol 2008 Feb;4(1):55-9. Epub 2007 Jun 4 doi: 10.1016/j.jpurol.2007.04.001. PMID: 18631893
La Manna A, Polito C, Marte A, Iovene A, Di Toro R
Pediatrics 2001 Jan;107(1):86-90. PMID: 11134439

Diagnosis

Purandare AV, Broom MA
Clin Pediatr (Phila) 2015 Aug;54(9):897-9. Epub 2014 Sep 19 doi: 10.1177/0009922814551136. PMID: 25238778
Akl K, Ghawanmeh R
Saudi J Kidney Dis Transpl 2012 Sep;23(5):979-84. doi: 10.4103/1319-2442.100879. PMID: 22982910
La Manna A, Polito C, Marte A, Iovene A, Di Toro R
Pediatrics 2001 Jan;107(1):86-90. PMID: 11134439
Praga M, Alegre R, Hernández E, Morales E, Domínguez-Gil B, Carreño A, Andrés A
Am J Kidney Dis 2000 Jan;35(1):141-5. doi: 10.1016/S0272-6386(00)70313-1. PMID: 10620556
Cattini Perrone H, Bruder Stapleton F, Toporovski J, Schor N
Clin Nephrol 1997 Nov;48(5):288-91. PMID: 9403212

Therapy

Mehta TH, Goldfarb DS
Adv Chronic Kidney Dis 2012 Nov;19(6):413-8. doi: 10.1053/j.ackd.2012.07.014. PMID: 23089277
Goldfarb DS
Clin J Am Soc Nephrol 2011 Aug;6(8):2093-7. Epub 2011 Jul 14 doi: 10.2215/CJN.00320111. PMID: 21757641Free PMC Article
Polito C, La Manna A, Signoriello G, Lama G
J Pediatr Urol 2008 Feb;4(1):55-9. Epub 2007 Jun 4 doi: 10.1016/j.jpurol.2007.04.001. PMID: 18631893
Akl K
Saudi J Kidney Dis Transpl 2008 Jul;19(4):619-23. PMID: 18580023
Cattini Perrone H, Bruder Stapleton F, Toporovski J, Schor N
Clin Nephrol 1997 Nov;48(5):288-91. PMID: 9403212

Prognosis

Purandare AV, Broom MA
Clin Pediatr (Phila) 2015 Aug;54(9):897-9. Epub 2014 Sep 19 doi: 10.1177/0009922814551136. PMID: 25238778
Akl K, Ghawanmeh R
Saudi J Kidney Dis Transpl 2012 Sep;23(5):979-84. doi: 10.4103/1319-2442.100879. PMID: 22982910
La Manna A, Polito C, Marte A, Iovene A, Di Toro R
Pediatrics 2001 Jan;107(1):86-90. PMID: 11134439
Cattini Perrone H, Bruder Stapleton F, Toporovski J, Schor N
Clin Nephrol 1997 Nov;48(5):288-91. PMID: 9403212
Andres A, Praga M, Bello I, Diaz-Rolón JA, Gutierrez-Millet V, Morales JM, Rodicio JL
Kidney Int 1989 Jul;36(1):96-9. PMID: 2811059

Clinical prediction guides

Purandare AV, Broom MA
Clin Pediatr (Phila) 2015 Aug;54(9):897-9. Epub 2014 Sep 19 doi: 10.1177/0009922814551136. PMID: 25238778
Akl K, Ghawanmeh R
Saudi J Kidney Dis Transpl 2012 Sep;23(5):979-84. doi: 10.4103/1319-2442.100879. PMID: 22982910
La Manna A, Polito C, Marte A, Iovene A, Di Toro R
Pediatrics 2001 Jan;107(1):86-90. PMID: 11134439
Praga M, Alegre R, Hernández E, Morales E, Domínguez-Gil B, Carreño A, Andrés A
Am J Kidney Dis 2000 Jan;35(1):141-5. doi: 10.1016/S0272-6386(00)70313-1. PMID: 10620556
Stapleton FB
Pediatr Nephrol 1994 Dec;8(6):756-61. PMID: 7696121

Recent systematic reviews

Prezioso D, Strazzullo P, Lotti T, Bianchi G, Borghi L, Caione P, Carini M, Caudarella R, Ferraro M, Gambaro G, Gelosa M, Guttilla A, Illiano E, Martino M, Meschi T, Messa P, Miano R, Napodano G, Nouvenne A, Rendina D, Rocco F, Rosa M, Sanseverino R, Salerno A, Spatafora S, Tasca A, Ticinesi A, Travaglini F, Trinchieri A, Vespasiani G, Zattoni F; CLU Working Group.
Arch Ital Urol Androl 2015 Jul 7;87(2):105-20. doi: 10.4081/aiua.2015.2.105. PMID: 26150027
Fink HA, Wilt TJ, Eidman KE, Garimella PS, MacDonald R, Rutks IR, Brasure M, Kane RL, Ouellette J, Monga M
Ann Intern Med 2013 Apr 2;158(7):535-43. doi: 10.7326/0003-4819-158-7-201304020-00005. PMID: 23546565
Eisner BH, Sheth S, Dretler SP, Herrick B, Pais VM Jr
Urology 2012 Oct;80(4):776-9. Epub 2012 Aug 22 doi: 10.1016/j.urology.2012.06.034. PMID: 22921696

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