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Bartter disease type 4A(BSND; BARTS4A)

MedGen UID:
355430
Concept ID:
C1865270
Disease or Syndrome
Synonyms: Bartter syndrome with sensorineural deafness; BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTTER SYNDROME, TYPE 4A; BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS
SNOMED CT: Bartter syndrome type 4a (717791000)
 
Gene (location): BSND (1p32.3)
 
Monarch Initiative: MONDO:0011242
OMIM®: 602522

Definition

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, 607364) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364. [from OMIM]

Additional description

From MedlinePlus Genetics
Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body.

In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth.

Two major forms of Bartter syndrome are distinguished by their age of onset and severity. One form begins before birth (antenatal) and is often life-threatening. The other form, often called the classical form, begins in early childhood and tends to be less severe. Once the genetic causes of Bartter syndrome were identified, researchers also split the disorder into different types based on the genes involved. Types I, II, and IV have the features of antenatal Bartter syndrome. Because type IV is also associated with hearing loss, it is sometimes called antenatal Bartter syndrome with sensorineural deafness. Type III usually has the features of classical Bartter syndrome.

Beginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive). They lose excess amounts of salt (sodium chloride) in their urine, which leads to dehydration, constipation, and increased urine production (polyuria). In addition, large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia). Some of the calcium is deposited in the kidneys as they are concentrating urine, leading to hardening of the kidney tissue (nephrocalcinosis). Bartter syndrome is also characterized by low levels of potassium in the blood (hypokalemia), which can result in muscle weakness, cramping, and fatigue. Rarely, affected children develop hearing loss caused by abnormalities in the inner ear (sensorineural deafness).  https://medlineplus.gov/genetics/condition/bartter-syndrome

Clinical features

From HPO
Polyuria
MedGen UID:
19404
Concept ID:
C0032617
Sign or Symptom
An increased rate of urine production.
Decreased glomerular filtration rate
MedGen UID:
163428
Concept ID:
C0853068
Finding
An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Renal salt wasting
MedGen UID:
375868
Concept ID:
C1846347
Finding
A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).
Increased urinary potassium
MedGen UID:
337562
Concept ID:
C1846351
Finding
An increased concentration of potassium(1+) in the urine.
Hyperchloriduria
MedGen UID:
337563
Concept ID:
C1846352
Finding
An increased concentration of chloride in the urine.
Impaired renal concentrating ability
MedGen UID:
395351
Concept ID:
C1859819
Finding
A defect in the ability to concentrate the urine.
Global glomerulosclerosis
MedGen UID:
355432
Concept ID:
C1865276
Finding
Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%.
Tubulointerstitial fibrosis
MedGen UID:
370652
Concept ID:
C1969372
Disease or Syndrome
A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy.
Hypernatriuria
MedGen UID:
854169
Concept ID:
C3671887
Finding
An increased concentration of sodium(1+) in the urine.
Reduced renal corticomedullary differentiation
MedGen UID:
813461
Concept ID:
C3807131
Finding
Reduced differentiation between renal cortex and medulla on diagnostic imaging.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Sensorineural hearing impairment
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Polydipsia
MedGen UID:
43214
Concept ID:
C0085602
Sign or Symptom
Excessive thirst manifested by excessive fluid intake.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Edema
MedGen UID:
4451
Concept ID:
C0013604
Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
An abnormally decreased potassium concentration in the blood.
Hyponatremia
MedGen UID:
6984
Concept ID:
C0020625
Finding
An abnormally decreased sodium concentration in the blood.
Hypochloremia
MedGen UID:
39088
Concept ID:
C0085680
Disease or Syndrome
An abnormally decreased chloride concentration in the blood.
Hypokalemic hypochloremic metabolic alkalosis
MedGen UID:
152851
Concept ID:
C0740896
Disease or Syndrome
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Hydrops fetalis
MedGen UID:
6947
Concept ID:
C0020305
Disease or Syndrome
The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
Premature birth
MedGen UID:
57721
Concept ID:
C0151526
Pathologic Function
The birth of a baby of less than 37 weeks of gestational age.
Fetal polyuria
MedGen UID:
355948
Concept ID:
C1865279
Finding
Abnormally increased production of urine by the fetus resulting in polyhydramnios.
Hyperaldosteronism
MedGen UID:
6960
Concept ID:
C0020428
Disease or Syndrome
Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.

Recent clinical studies

Diagnosis

Vaisbich MH, Messa ACHL, Rangel-Santos AC, Ferreira JCOA, Nunes FAMDF, Watanabe A
Nephron 2023;147(8):478-495. Epub 2023 Mar 7 doi: 10.1159/000528557. PMID: 36882007
Nozu K, Yamamura T, Horinouchi T, Nagano C, Sakakibara N, Ishikura K, Hamada R, Morisada N, Iijima K
Pediatr Int 2020 Apr;62(4):428-437. Epub 2020 Apr 13 doi: 10.1111/ped.14089. PMID: 31830341
Soylu Ustkoyuncu P, Nalcacioglu H, Bastug F, Yel S, Altuner Torun Y
Iran J Kidney Dis 2019 Jan;13(1):71-72. PMID: 30851722

Therapy

de Lavillandre JLB, Buron F, Ducroux E, Kanitakis J
Skinmed 2022;20(2):145-148. Epub 2022 Apr 30 PMID: 35532771

Clinical prediction guides

Steinke KV, Gorinski N, Wojciechowski D, Todorov V, Guseva D, Ponimaskin E, Fahlke C, Fischer M
J Biol Chem 2015 Jul 10;290(28):17390-400. Epub 2015 May 26 doi: 10.1074/jbc.M114.631705. PMID: 26013830Free PMC Article

Recent systematic reviews

Vaisbich MH, Messa ACHL, Rangel-Santos AC, Ferreira JCOA, Nunes FAMDF, Watanabe A
Nephron 2023;147(8):478-495. Epub 2023 Mar 7 doi: 10.1159/000528557. PMID: 36882007

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