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Hyperuricemic nephropathy, familial juvenile, 2(HNFJ2)

MedGen UID:
414347
Concept ID:
C2751310
Disease or Syndrome
Synonyms: EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE; HNFJ2
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): REN (1q32.1)
OMIM®: 613092
Orphanet: ORPHA217330

Disease characteristics

Autosomal dominant tubulointerstitial kidney disease, REN-related (ADTKD-REN) (previously familial juvenile hyperuricemic nephropathy type 2 [FJHN2]) is characterized by: hypoproliferative anemia with low hemoglobin concentrations, found in most affected children by age one year; hyperuricemia and gout, found in most (not all) affected individuals; and slowly progressive chronic tubulointerstitial kidney disease. Some affected children have polyuria (excessive urine production leading to frequent urination) and enuresis. Mildly elevated serum creatinine concentration and reduced estimated glomerular filtration rate in an asymptomatic child often progresses to end-stage renal disease (ESRD) in the fourth to sixth decades of life. Of note, information on only fourteen families with this condition has been published; better understanding of the disease is likely to emerge when more families are described. [from GeneReviews]
Authors:
Stanislav Kmoch  |  Martina Živná  |  Anthony J Bleyer   view full author information

Additional description

From GHR
REN-related kidney disease is an inherited condition that affects kidney function. This condition causes slowly progressive kidney disease that usually becomes apparent during childhood. As this condition progresses, the kidneys become less able to filter fluids and waste products from the body, resulting in kidney failure. Individuals with REN-related kidney disease typically require dialysis (to remove wastes from the blood) or a kidney transplant between ages 40 and 70.People with REN-related kidney disease sometimes have low blood pressure. They may also have mildly increased levels of potassium in their blood (hyperkalemia). In childhood, people with REN-related kidney disease develop a shortage of red blood cells (anemia), which can cause pale skin, weakness, and fatigue. In this disorder, anemia is usually mild and begins to improve during adolescence.Many individuals with this condition develop high blood levels of a waste product called uric acid. Normally, the kidneys remove uric acid from the blood and transfer it to urine so it can be excreted from the body. In REN-related kidney disease, the kidneys are unable to remove uric acid from the blood effectively. A buildup of uric acid can cause gout, which is a form of arthritis resulting from uric acid crystals in the joints. Individuals with REN-related kidney disease may begin to experience the signs and symptoms of gout during their twenties.  https://ghr.nlm.nih.gov/condition/ren-related-kidney-disease

Clinical features

Disorder of endocrine system
MedGen UID:
4043
Concept ID:
C0014130
Disease or Syndrome
Your endocrine system includes eight major glands throughout your body. These glands make hormones. Hormones are chemical messengers. They travel through your bloodstream to tissues or organs. Hormones work slowly and affect body processes from head to toe. These include. -Growth and development. -Metabolism - digestion, elimination, breathing, blood circulation and maintaining body temperature . -Sexual function. -Reproduction. -Mood. If your hormone levels are too high or too low, you may have a hormone disorder. Hormone diseases also occur if your body does not respond to hormones the way it is supposed to. Stress, infection and changes in your blood's fluid and electrolyte balance can also influence hormone levels. In the United States, the most common endocrine disease is diabetes. There are many others. They are usually treated by controlling how much hormone your body makes. Hormone supplements can help if the problem is too little of a hormone.
Hyperuricemia
MedGen UID:
149260
Concept ID:
C0740394
Disease or Syndrome
Excessive URIC ACID or urate in blood as defined by its solubility in plasma at 37 degrees C; greater than 0.42mmol per liter (7.0mg/dL) in men or 0.36mmol per liter (6.0mg/dL) in women. This condition is caused by overproduction of uric acid or impaired renal clearance. Hyperuricemia can be acquired, drug-induced or genetically determined (LESCH-NYHAN SYNDROME). It is associated with HYPERTENSION and GOUT.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperuricemic nephropathy, familial juvenile, 2
Follow this link to review classifications for Hyperuricemic nephropathy, familial juvenile, 2 in Orphanet.

Recent clinical studies

Etiology

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
Spain H, Plumb T, Mikuls TR
J Clin Rheumatol 2014 Dec;20(8):442-4. doi: 10.1097/RHU.0000000000000188. PMID: 25417683
Iorember FM, Vehaskari VM
Pediatr Nephrol 2014 Jul;29(7):1151-8. Epub 2013 Jul 24 doi: 10.1007/s00467-013-2563-z. PMID: 23880785
Liu M, Chen Y, Liang Y, Liu Y, Wang S, Hou P, Zhang H, Zhao M
Gene 2013 Dec 1;531(2):363-9. Epub 2013 Aug 27 doi: 10.1016/j.gene.2013.08.041. PMID: 23988501
Chen SY, Shen ML
J Rheumatol 2007 Nov;34(11):2308-11. Epub 2007 Oct 15 PMID: 17937457

Diagnosis

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
Spain H, Plumb T, Mikuls TR
J Clin Rheumatol 2014 Dec;20(8):442-4. doi: 10.1097/RHU.0000000000000188. PMID: 25417683
Salgueiro G, Beltrán LM, Torres RJ, Puig JG
Nucleosides Nucleotides Nucleic Acids 2014;33(4-6):181-4. doi: 10.1080/15257770.2013.854382. PMID: 24940667
Lee MN, Jun JE, Kwon GY, Huh WS, Ki CS
Ann Lab Med 2013 Jul;33(4):293-6. Epub 2013 Jun 24 doi: 10.3343/alm.2013.33.4.293. PMID: 23826568Free PMC Article

Therapy

Spain H, Plumb T, Mikuls TR
J Clin Rheumatol 2014 Dec;20(8):442-4. doi: 10.1097/RHU.0000000000000188. PMID: 25417683
Salgueiro G, Beltrán LM, Torres RJ, Puig JG
Nucleosides Nucleotides Nucleic Acids 2014;33(4-6):181-4. doi: 10.1080/15257770.2013.854382. PMID: 24940667
Henriques CC, Monteiro A, Lopéz B, Sequeira L, Panarra A, Riso N
BMJ Case Rep 2012 Apr 2;2012 doi: 10.1136/bcr.12.2011.5345. PMID: 22602839Free PMC Article

Prognosis

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
Spain H, Plumb T, Mikuls TR
J Clin Rheumatol 2014 Dec;20(8):442-4. doi: 10.1097/RHU.0000000000000188. PMID: 25417683

Clinical prediction guides

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
Liu M, Chen Y, Liang Y, Liu Y, Wang S, Hou P, Zhang H, Zhao M
Gene 2013 Dec 1;531(2):363-9. Epub 2013 Aug 27 doi: 10.1016/j.gene.2013.08.041. PMID: 23988501
Renigunta A, Renigunta V, Saritas T, Decher N, Mutig K, Waldegger S
J Biol Chem 2011 Jan 21;286(3):2224-35. Epub 2010 Nov 16 doi: 10.1074/jbc.M110.149880. PMID: 21081491Free PMC Article
Piret SE, Danoy P, Dahan K, Reed AA, Pryce K, Wong W, Torres RJ, Puig JG, Müller T, Kotanko P, Lhotta K, Devuyst O, Brown MA, Thakker RV
Hum Genet 2011 Jan;129(1):51-8. Epub 2010 Oct 26 doi: 10.1007/s00439-010-0897-1. PMID: 20976470
Takiue Y, Hosoyamada M, Yokoo T, Kimura M, Shibasaki T
Biol Pharm Bull 2008 Mar;31(3):405-11. PMID: 18310901

Recent systematic reviews

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

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