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Dalmatian hypouricemia(RHUC1)

MedGen UID:
141632
Concept ID:
C0473219
Disease or Syndrome
Synonyms: Renal hypouricemia; Renal Hypouricemia 1; RHUC1
SNOMED CT: Dalmatian hypouricemia (236478009)
 
Gene (location): SLC22A12 (11q13.1)
 
Monarch Initiative: MONDO:0020728
OMIM®: 220150

Definition

Renal hypouricemia is characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells. The syndrome is not lethal and may be asymptomatic. However, it is accompanied by nephrolithiasis and exercise-induced acute renal failure in about 10% of patients (Ichida et al., 2008). Genetic Heterogeneity of Renal Hypouricemia See also RHUC2 (612076), which is caused by mutation in the SLC2A9 gene (606142). [from OMIM]

Additional description

From MedlinePlus Genetics
Renal hypouricemia is a kidney (renal) disorder that results in a reduced amount of urate in the blood. Urate is a byproduct of certain normal chemical reactions in the body. In the bloodstream it acts as an antioxidant, protecting cells from the damaging effects of unstable molecules called free radicals. However, having too much urate in the body is toxic, so excess urate is removed from the body in urine.

People with renal hypouricemia have little to no urate in their blood; they release an excessive amount of it in the urine. In many affected individuals, renal hypouricemia causes no signs or symptoms. However, some people with this condition develop kidney problems. After strenuous exercise, they can develop exercise-induced acute kidney injury, which causes pain in their sides and lower back as well as nausea and vomiting that can last several hours.

Because an excessive amount of urate passes through the kidneys to be excreted in urine in people with renal hypouricemia, they have an increased risk of developing kidney stones (nephrolithiasis) formed from urate crystals. These urate stones can damage the kidneys and lead to episodes of blood in the urine (hematuria). Rarely, people with renal hypouricemia develop life-threatening kidney failure.  https://medlineplus.gov/genetics/condition/renal-hypouricemia

Clinical features

From HPO
Renal tubular epithelial necrosis
MedGen UID:
7213
Concept ID:
C0022672
Disease or Syndrome
Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%).
Oliguria
MedGen UID:
18163
Concept ID:
C0028961
Disease or Syndrome
Low output of urine, clinically classified as an output below 300-500ml/day.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Uric acid nephrolithiasis
MedGen UID:
140791
Concept ID:
C0403719
Disease or Syndrome
The presence of uric acid-containing calculi (stones) in the kidneys.
Urolithiasis
MedGen UID:
141536
Concept ID:
C0451641
Disease or Syndrome
Renal stones are formed within the kidneys, and this is called nephrolithiasis. Urolithiasis is a condition that occurs when these stones exit the renal pelvis and move into the remainder of the urinary collecting system, which includes the ureters, bladder, and urethra.
Hyperuricosuria
MedGen UID:
182691
Concept ID:
C0948643
Finding
An abnormally high level of uric acid in the urine.
Acute kidney injury
MedGen UID:
388570
Concept ID:
C2609414
Injury or Poisoning
Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).
Renal cortical hyperechogenicity
MedGen UID:
1770764
Concept ID:
C5421632
Finding
Increased echogenecity of the kidney cortex.
Elevated fractional excretion of urate
MedGen UID:
1054660
Concept ID:
CN377895
Finding
Abnormally increased proportion of filtered urate that is excreted in the urine as calculated using the concentrations of urate and creatinine in both blood and urine. Clinically this manifests as uric acid wasting.
Hypouricemia
MedGen UID:
113163
Concept ID:
C0221333
Finding
An abnormally low level of uric acid in the blood.
Elevated circulating creatinine concentration
MedGen UID:
148579
Concept ID:
C0700225
Finding
An increased amount of creatinine in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Mou L, Zhu L, Chen X, Hu Y, Zhu H, Xu Y
Mol Diagn Ther 2024 Jan;28(1):87-99. Epub 2023 Nov 16 doi: 10.1007/s40291-023-00683-w. PMID: 37971623
Nakayama A, Matsuo H, Abhishek A, Ichida K, Shinomiya N; members of Guideline Development Committee of Clinical Practice Guideline for Renal Hypouricaemia
Rheumatology (Oxford) 2021 Sep 1;60(9):3961-3963. doi: 10.1093/rheumatology/keab322. PMID: 34469572
Nakayama A, Matsuo H, Ohtahara A, Ogino K, Hakoda M, Hamada T, Hosoyamada M, Yamaguchi S, Hisatome I, Ichida K, Shinomiya N
Hum Cell 2019 Apr;32(2):83-87. Epub 2019 Feb 19 doi: 10.1007/s13577-019-00239-3. PMID: 30783949Free PMC Article

Recent clinical studies

Etiology

Köksoy AY, Görükmez Ö, Dorum S
Pediatr Nephrol 2023 Sep;38(9):3017-3025. Epub 2023 Mar 31 doi: 10.1007/s00467-023-05948-4. PMID: 37000195
Aoki Y, Sofue T, Kawakami R, Ozaki T, Manabe M, Kanda K, Yoda T, Kusaka T, Hirao T, Minamino T
Sci Rep 2022 Oct 25;12(1):17848. doi: 10.1038/s41598-022-19724-1. PMID: 36284103Free PMC Article
Wakasugi M, Kazama JJ, Narita I, Konta T, Fujimoto S, Iseki K, Moriyama T, Yamagata K, Tsuruya K, Asahi K, Kimura K, Kondo M, Kurahashi I, Ohashi Y, Watanabe T
Am J Nephrol 2015;41(2):138-46. Epub 2015 Mar 18 doi: 10.1159/000381106. PMID: 25790961
Sperling O
Mol Genet Metab 2006 Sep-Oct;89(1-2):14-8. Epub 2006 May 5 doi: 10.1016/j.ymgme.2006.03.015. PMID: 16678460
Halabe A, Sperling O
Miner Electrolyte Metab 1994;20(6):424-31. PMID: 7783706

Diagnosis

Zhou J, Zhang M, Xie Q, Xu N, Li M, Zhang M, Hao C
BMC Nephrol 2023 Dec 21;24(1):384. doi: 10.1186/s12882-023-03378-w. PMID: 38129773Free PMC Article
Pineda C, Soto-Fajardo C, Mendoza J, Gutiérrez J, Sandoval H
Clin Rheumatol 2020 Jan;39(1):135-147. Epub 2019 Oct 24 doi: 10.1007/s10067-019-04788-8. PMID: 31650389
Wang C, Wang J, Liu S, Liang X, Song Y, Feng L, Zhong L, Guo X
Mol Med Rep 2019 Dec;20(6):5118-5124. Epub 2019 Oct 4 doi: 10.3892/mmr.2019.10726. PMID: 31638209Free PMC Article
Esparza Martín N, García Nieto V
Nefrologia 2011;31(1):44-50. doi: 10.3265/Nefrologia.pre2010.Oct.10588. PMID: 21270912
Sperling O
Mol Genet Metab 2006 Sep-Oct;89(1-2):14-8. Epub 2006 May 5 doi: 10.1016/j.ymgme.2006.03.015. PMID: 16678460

Therapy

Park JH, Jo YI, Lee JH
Korean J Intern Med 2020 Nov;35(6):1291-1304. Epub 2020 Sep 9 doi: 10.3904/kjim.2020.410. PMID: 32872730Free PMC Article
Pineda C, Soto-Fajardo C, Mendoza J, Gutiérrez J, Sandoval H
Clin Rheumatol 2020 Jan;39(1):135-147. Epub 2019 Oct 24 doi: 10.1007/s10067-019-04788-8. PMID: 31650389
Stiburkova B, Sebesta I
Pediatr Nephrol 2018 Dec;33(12):2277-2279. Epub 2018 Mar 12 doi: 10.1007/s00467-018-3934-2. PMID: 29532232
Esparza Martín N, García Nieto V
Nefrologia 2011;31(1):44-50. doi: 10.3265/Nefrologia.pre2010.Oct.10588. PMID: 21270912
Halabe A, Sperling O
Miner Electrolyte Metab 1994;20(6):424-31. PMID: 7783706

Prognosis

Cha DH, Gee HY, Cachau R, Choi JM, Park D, Jee SH, Ryu S, Kim KK, Won HH, Limou S, Myung W, Winkler CA, Cho SK
Sci Rep 2019 Oct 7;9(1):14360. doi: 10.1038/s41598-019-50798-6. PMID: 31591475Free PMC Article
Wakasugi M, Kazama JJ, Narita I, Konta T, Fujimoto S, Iseki K, Moriyama T, Yamagata K, Tsuruya K, Asahi K, Kimura K, Kondo M, Kurahashi I, Ohashi Y, Watanabe T
Am J Nephrol 2015;41(2):138-46. Epub 2015 Mar 18 doi: 10.1159/000381106. PMID: 25790961
Koepsell H
Mol Aspects Med 2013 Apr-Jun;34(2-3):413-35. doi: 10.1016/j.mam.2012.10.010. PMID: 23506881
Koepsell H, Endou H
Pflugers Arch 2004 Feb;447(5):666-76. Epub 2003 Jul 19 doi: 10.1007/s00424-003-1089-9. PMID: 12883891
Ishikawa I
Nephron 2002 Aug;91(4):559-70. doi: 10.1159/000065013. PMID: 12138255

Clinical prediction guides

Park JH, Jo YI, Lee JH
Korean J Intern Med 2020 Nov;35(6):1291-1304. Epub 2020 Sep 9 doi: 10.3904/kjim.2020.410. PMID: 32872730Free PMC Article
Sebesta I, Miyamoto D, Stiburkova B, Blahova S, Sato N, Nagata K, Okamoto K, Tsuruoka S, Ichida K
Nucleosides Nucleotides Nucleic Acids 2020;39(10-12):1432-1439. Epub 2020 Apr 20 doi: 10.1080/15257770.2020.1750636. PMID: 32312155
Cha DH, Gee HY, Cachau R, Choi JM, Park D, Jee SH, Ryu S, Kim KK, Won HH, Limou S, Myung W, Winkler CA, Cho SK
Sci Rep 2019 Oct 7;9(1):14360. doi: 10.1038/s41598-019-50798-6. PMID: 31591475Free PMC Article
Koepsell H
Mol Aspects Med 2013 Apr-Jun;34(2-3):413-35. doi: 10.1016/j.mam.2012.10.010. PMID: 23506881
Koepsell H, Endou H
Pflugers Arch 2004 Feb;447(5):666-76. Epub 2003 Jul 19 doi: 10.1007/s00424-003-1089-9. PMID: 12883891

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