Rare Gastroenterology News

Disease Profile

Bartter syndrome type 4

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Antenatal

ICD-10

E26.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

rnn-autosomalrecessive.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Bartter syndrome with sensorineural deafness; BSND

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Kidney and Urinary Diseases;

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 89938

Definition
Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II.

Epidemiology
It is the least common of all recessive types of Bartter syndrome.

Clinical description
Infantile Bartter syndrome with deafness is a severe type of Bartter syndrome manifesting prenatally with maternal polyhydramnios (due to fetal polyuria) usually evident by the end of 2nd trimester, often leading to preterm labour and prematurity. Postnatally patients present with polyuria, isosthenuria/hyposthenuria and are at high risk of dehydration, hypovolemic hypotension and shock. Patients are found to have complete sensorineural deafness. Recurrent vomiting, muscle cramps, spasms and failure to thrive are observed. Progression to renal failure is frequent. Hypokalemic alkalosis, hypomagnesemia, hyperprostaglandin E-uria and hypochloremia are noted (hypercalciuria is only transient).

Etiology
Infantile Bartter syndrome with deafness is caused by a defect in chloride transport in thick ascending loop of Henle and distal convoluted tubule as a consequence of inactivating mutations of the gene BSND (1p32.3) encoding for the protein Barttin (Bartter syndrome type 4A), required for the location and proper function of the voltage sensitive, Ka and Kb chloride channels of the basolateral membrane, (ClCKa and ClCKb). In addition to mutations of Barttin, infantile Bartter syndrome with deafness may be caused by digeneic (CLCKA and CLCKB 1p36) mutations inactivating all the 4 alleles of the 2 genes (or Bartter syndrome type 4B). CLCKa is highly expressed in the inner ear and contributes to maintain the high potassium ion concentration in the endolymph necessary for normal hearing, disruption of the function of which thus leads to nerve deafness.

Genetic counseling
The disease is transmitted in an autosomal recessive manner.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Congenital onset
Symptoms present at birth
0003577
Decreased glomerular filtration rate
0012213
Edema
Fluid retention
Water retention

[ more ]

0000969
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Fetal polyuria
0001563
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Global glomerulosclerosis
0004737
Hydrops fetalis
0001789
Hyperaldosteronism
Elevated plasma aldosterone
Increased aldosterone
Increased aldosterone production

[ more ]

0000859
Hyperchloriduria
Increased urinary chloride
0002914
Hypernatriuria
0012605
Hypochloremia
Low blood chloride levels
0003113
Hypokalemia
Low blood potassium levels
0002900
Hypokalemic hypochloremic metabolic alkalosis
0004909
Hyponatremia
Low blood sodium levels
0002902
Hyporeflexia
Decreased reflex response
Decreased reflexes

[ more ]

0001265
Increased urinary potassium
0003081
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Motor delay
0001270
Muscular hypotonia
Low or weak muscle tone
0001252
Polyhydramnios
High levels of amniotic fluid
0001561
Polyuria
Increased urine output
0000103
Premature birth
Premature delivery of affected infants
Preterm delivery

[ more ]

0001622
Reduced renal corticomedullary differentiation
0005565
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083
Renal salt wasting
Loss of salt in urine
0000127
Sensorineural hearing impairment
0000407
Tubulointerstitial fibrosis
0005576

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Bartter syndrome type 4. Click on the link to view a sample search on this topic.