Bartter syndrome type 4

MedGen UID:: 824706
•Concept ID:: C3838860
•: Disease or Syndrome

Synonym:	Infantile Bartter syndrome with sensorineural deafness
SNOMED CT:	Bartter syndrome type 4 (700112007); Bartter's syndrome type 4 (700112007)
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)

Monarch Initiative:	MONDO:0019524
Orphanet:	ORPHA89938

Definition

A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVBartter syndrome type 4

Abnormality of the endocrine system
- Abnormality of the adrenal glands
  - Abnormality of adrenal physiology
    - Adrenal overactivity
      - Hyperaldosteronism
        Bartter syndrome
        Bartter syndrome type 4

Professional guidelines

PubMed

Postprandial hypoglycemia after gastric bypass surgery: from pathogenesis to diagnosis and treatment.

Honka H, Salehi M
Curr Opin Clin Nutr Metab Care 2019 Jul;22(4):295-302. doi: 10.1097/MCO.0000000000000574. PMID: 31082828 Free PMC Article

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.

Najafi M, Kordi-Tamandani DM, Behjati F, Sadeghi-Bojd S, Bakey Z, Karimiani EG, Schüle I, Azarfar A, Schmidts M
Orphanet J Rare Dis 2019 Feb 13;14(1):41. doi: 10.1186/s13023-018-0981-5. PMID: 30760291 Free PMC Article

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Bartter syndrome type 4

Definition

Term Hierarchy

Professional guidelines

PubMed

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