Familial renal hypouricemia

MedGen UID:: 1643078
•Concept ID:: C4551590
•: Disease or Syndrome

Synonym:	Hereditary renal hypouricemia
SNOMED CT:	Familial renal hypouricemia (236478009)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	SLC22A12, SLC2A9

Monarch Initiative:	MONDO:0009071
Orphanet:	ORPHA94088

Definition

A genetic renal tubular disorder characterized by urinary urate wasting that typically leads to asymptomatic hypouricemia and predisposes to urolithiasis and exercise-induced acute renal failure (EIARF). [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVFamilial renal hypouricemia
- CROGVDalmatian hypouricemia
- CROGVHypouricemia, renal, 2

Inherited renal tubular disease
- Familial renal hypouricemia
  - Dalmatian hypouricemia
  - Hypouricemia, renal, 2

Professional guidelines

PubMed

Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China.

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

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Recent clinical studies

Etiology

Normal urate transport into erythrocytes in familial renal hypouricemia and in the Dalmatian dog.

Vinay P, Gattereau A, Moulin B, Gougoux A, Lemieux G
Can Med Assoc J 1983 Mar 1;128(5):545-9. PMID: 6825020 Free PMC Article

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Diagnosis

Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.

Jeannin G, Chiarelli N, Gaggiotti M, Ritelli M, Maiorca P, Quinzani S, Verzeletti F, Possenti S, Colombi M, Cancarini G
BMC Med Genet 2014 Jan 7;15:3. doi: 10.1186/1471-2350-15-3. PMID: 24397858 Free PMC Article

Two male siblings with hereditary renal hypouricemia and exercise-induced ARF.

Tanaka M, Itoh K, Matsushita K, Matsushita K, Wakita N, Adachi M, Nonoguchi H, Kitamura K, Hosoyamada M, Endou H, Tomita K
Am J Kidney Dis 2003 Dec;42(6):1287-92. doi: 10.1053/j.ajkd.2003.08.032. PMID: 14655203

Familial renal hypouricemia with intact reabsorption of uric acid.

Nakajima H, Gomi M, Iida S, Kono N, Moriwaki K, Tarui S
Nephron 1987;45(1):40-2. doi: 10.1159/000184069. PMID: 3808147

Familial hypouricemia due to isolated renal tubular defect. Attenuated response of uric acid clearance to probenecid and pyrazinamide.

Benjamin D, Sperling O, Weinberger A, Pinkhas J, de Vries A
Nephron 1977;18(4):220-5. doi: 10.1159/000180832. PMID: 854144

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