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Hypouricemia, familial renal, due to tubular hypersecretion

MedGen UID:
334869
•Concept ID:
C1843972
•
Disease or Syndrome
Synonym: Hypouricemia, Familial Renal, due to Tubular Hypersecretion
 
Monarch Initiative: MONDO:0010620
OMIM®: 307830

Clinical features

From HPO
Hypouricemia
MedGen UID:
113163
•Concept ID:
C0221333
•
Finding
An abnormally low level of uric acid in the blood.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Uric acid and cognitive decline: a double-edge sword?
Latourte A, Bardin T, Richette P
Curr Opin Rheumatol 2018 Mar;30(2):183-187. doi: 10.1097/BOR.0000000000000472. PMID: 29389776

Diagnosis

Acute kidney injury after acute gastroenteritis in an infant with hereditary hypouricemia.
Kamei K, Ogura M, Ishimori S, Kaito H, Iijima K, Ito S
Eur J Pediatr 2014 Feb;173(2):247-9. Epub 2013 May 8 doi: 10.1007/s00431-013-2010-y. PMID: 23652934
Genetic disorders resulting in hyper- or hypouricemia.
Sebesta I
Adv Chronic Kidney Dis 2012 Nov;19(6):398-403. doi: 10.1053/j.ackd.2012.06.002. PMID: 23089275

Therapy

Uric acid and cognitive decline: a double-edge sword?
Latourte A, Bardin T, Richette P
Curr Opin Rheumatol 2018 Mar;30(2):183-187. doi: 10.1097/BOR.0000000000000472. PMID: 29389776

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