U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Familial renal glucosuria(GLYS)

MedGen UID:
757652
Concept ID:
C3245525
Disease or Syndrome
Synonyms: Familial renal glycosuria; GLYS; RENAL GLUCOSURIA, AUTOSOMAL DOMINANT
SNOMED CT: Familial renal glucosuria (226309007)
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 dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): SLC5A2 (16p11.2)
 
Monarch Initiative: MONDO:0009297
OMIM®: 233100
Orphanet: ORPHA69076

Definition

Patients with familial renal glucosuria have decreased renal tubular resorption of glucose form the urine in the absence of hyperglycemia and any other signs of tubular dysfunction. Glucosuria in these patients can range from less than 1 to over 150 g/1.73 m(2) per day (Santer and Calado, 2010). [from OMIM]

Clinical features

From HPO
Glycosuria
MedGen UID:
42267
Concept ID:
C0017979
Finding
An increased concentration of glucose in the urine.
Polyuria
MedGen UID:
19404
Concept ID:
C0032617
Sign or Symptom
An increased rate of urine production.
Nocturnal enuresis
MedGen UID:
124355
Concept ID:
C0270327
Mental or Behavioral Dysfunction
Nocturnal enuresis, or nightly bedwetting in children more than 7 years of age, affects about 10% of 7-year-old children, with a wide range of frequencies between populations. The affliction is often linked to major social maladjustments and occupies considerable time in general medical practice. From the age of 7, there is a spontaneous cure rate of 15% per year, such that few remain affected after the age of 16 years. There are 2 types of nocturnal enuresis: type I, the primary form (PNE), with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder, and type II, or secondary type, where the child has been dry for at least 6 months but enuresis has recurred (summary by Eiberg et al., 1995). Genetic Heterogeneity of Nocturnal Enuresis ENUR1 has been mapped to chromosome 13q, and ENUR2 has been mapped to chromosome 12q.
Polyphagia
MedGen UID:
9369
Concept ID:
C0020505
Finding
A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.
Polydipsia
MedGen UID:
43214
Concept ID:
C0085602
Sign or Symptom
Excessive thirst manifested by excessive fluid intake.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Barata R, Fila M, Dalla-Vale F, Bogarin R, Nunes P, Ramalho J, Rueff J, Calado J
Clin Genet 2023 Nov;104(5):582-586. Epub 2023 Jun 22 doi: 10.1111/cge.14395. PMID: 37349938
Nair S, Wilding JP
J Clin Endocrinol Metab 2010 Jan;95(1):34-42. Epub 2009 Nov 5 doi: 10.1210/jc.2009-0473. PMID: 19892839
Bays H
Curr Med Res Opin 2009 Mar;25(3):671-81. doi: 10.1185/03007990802710422. PMID: 19232040

Recent clinical studies

Etiology

Bechmann LE, Emanuelsson F, Nordestgaard BG, Benn M
Cardiovasc Res 2023 Nov 15;119(14):2482-2493. doi: 10.1093/cvr/cvad122. PMID: 37516996
Aires I, Fila M, Polidori D, Santos AR, Costa AB, Calado J
Nephron 2015;129(4):300-4. Epub 2015 Apr 18 doi: 10.1159/000381677. PMID: 25896487
Nair S, Wilding JP
J Clin Endocrinol Metab 2010 Jan;95(1):34-42. Epub 2009 Nov 5 doi: 10.1210/jc.2009-0473. PMID: 19892839
Calado J, Sznajer Y, Metzger D, Rita A, Hogan MC, Kattamis A, Scharf M, Tasic V, Greil J, Brinkert F, Kemper MJ, Santer R
Nephrol Dial Transplant 2008 Dec;23(12):3874-9. Epub 2008 Jul 12 doi: 10.1093/ndt/gfn386. PMID: 18622023

Diagnosis

Bechmann LE, Emanuelsson F, Nordestgaard BG, Benn M
Cardiovasc Res 2023 Nov 15;119(14):2482-2493. doi: 10.1093/cvr/cvad122. PMID: 37516996
Leslie BR, Gerwin LE, Taylor SI
Ann Intern Med 2019 Sep 17;171(6):421-426. doi: 10.7326/M19-1463. PMID: 31525753
Li S, Yang Y, Huang L, Kong M, Yang Z
Mol Med Rep 2019 May;19(5):4364-4376. Epub 2019 Apr 1 doi: 10.3892/mmr.2019.10110. PMID: 30942416Free PMC Article
Lee H, Han KH, Park HW, Shin JI, Kim CJ, Namgung MK, Kim KH, Koo JW, Chung WY, Lee DY, Kim SY, Cheong HI
Pediatr Nephrol 2012 Jul;27(7):1091-5. doi: 10.1007/s00467-012-2109-9. PMID: 22314875
Bays H
Curr Med Res Opin 2009 Mar;25(3):671-81. doi: 10.1185/03007990802710422. PMID: 19232040

Therapy

Bechmann LE, Emanuelsson F, Nordestgaard BG, Benn M
Cardiovasc Res 2023 Nov 15;119(14):2482-2493. doi: 10.1093/cvr/cvad122. PMID: 37516996
Leslie BR, Gerwin LE, Taylor SI
Ann Intern Med 2019 Sep 17;171(6):421-426. doi: 10.7326/M19-1463. PMID: 31525753
Gu X, Chen M, Xu Y, Wang Y
Medicine (Baltimore) 2018 Dec;97(50):e13664. doi: 10.1097/MD.0000000000013664. PMID: 30558067Free PMC Article
Tönjes A, Kovacs P
Pharmacogenomics 2013 May;14(7):825-33. doi: 10.2217/pgs.13.61. PMID: 23651029
Nair S, Wilding JP
J Clin Endocrinol Metab 2010 Jan;95(1):34-42. Epub 2009 Nov 5 doi: 10.1210/jc.2009-0473. PMID: 19892839

Prognosis

Sada K, Hidaka S, Imaishi N, Shibata K, Katashima R, Noso S, Ikegami H, Kakuma T, Shibata H
J Diabetes Investig 2020 May;11(3):573-577. Epub 2019 Nov 1 doi: 10.1111/jdi.13157. PMID: 31584752Free PMC Article
Li S, Yang Y, Huang L, Kong M, Yang Z
Mol Med Rep 2019 May;19(5):4364-4376. Epub 2019 Apr 1 doi: 10.3892/mmr.2019.10110. PMID: 30942416Free PMC Article
Wang X, Yu M, Wang T, Zhang H, Ping F, Zhang Q, Xu J, Feng K, Xiao X
Clin Chim Acta 2017 Jun;469:105-110. Epub 2017 Mar 29 doi: 10.1016/j.cca.2017.03.027. PMID: 28365451
Santer R, Calado J
Clin J Am Soc Nephrol 2010 Jan;5(1):133-41. Epub 2009 Nov 5 doi: 10.2215/CJN.04010609. PMID: 19965550

Clinical prediction guides

Bechmann LE, Emanuelsson F, Nordestgaard BG, Benn M
Cardiovasc Res 2023 Nov 15;119(14):2482-2493. doi: 10.1093/cvr/cvad122. PMID: 37516996
Sada K, Hidaka S, Imaishi N, Shibata K, Katashima R, Noso S, Ikegami H, Kakuma T, Shibata H
J Diabetes Investig 2020 May;11(3):573-577. Epub 2019 Nov 1 doi: 10.1111/jdi.13157. PMID: 31584752Free PMC Article
Lee H, Han KH, Park HW, Shin JI, Kim CJ, Namgung MK, Kim KH, Koo JW, Chung WY, Lee DY, Kim SY, Cheong HI
Pediatr Nephrol 2012 Jul;27(7):1091-5. doi: 10.1007/s00467-012-2109-9. PMID: 22314875
Santer R, Calado J
Clin J Am Soc Nephrol 2010 Jan;5(1):133-41. Epub 2009 Nov 5 doi: 10.2215/CJN.04010609. PMID: 19965550
Calado J, Loeffler J, Sakallioglu O, Gok F, Lhotta K, Barata J, Rueff J
Kidney Int 2006 Mar;69(5):852-5. doi: 10.1038/sj.ki.5000194. PMID: 16518345

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...