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Bartter Syndrome

BSND


Presentation

  • […] in early childhood with polyuria, polydipsia with a predisposition to dehydration neonatal: presents earlier History and etymology First described in 1962 by American physician Frederic Crosby Bartter (1914-1983).[radiopaedia.org]
  • Less frequently, hyperplasia of the medullary interstitial cells is present.[de.slideshare.net]
  • We describe the presentation and clinical course of a neonate born at 25.6 weeks estimated gestational age with polyuria, hyponatremia, hypokalemia and hypercalciuria ,who was diagnosed with neonatal Bartter syndrome.[nature.com]
  • Polydipsia, polyuria, and vomiting may be present. In general, neither Bartter syndrome nor Gitelman syndrome typically leads to chronic renal insufficiency.[msdmanuals.com]
  • Pseudo-Bartter’s syndrome is a syndrome of similar presentation as Bartter syndrome but without any of its characteristic genetic defects.[en.wikipedia.org]
Short Stature
  • Clinical findings Proximal muscle weakness, failure to thrive, short stature, convulsions, tetany, cramps, ileus, gout, mental retardation, enuresis, nocturia, polyuria, salt craving, constipation, insensitivity to angiotensin II pressor effects, normal[medical-dictionary.thefreedictionary.com]
  • Exogenous growth hormone can be considered to treat short stature.[msdmanuals.com]
  • Growth delays and growth retardation may be seen as affected children age, and final adult height may be shorter than would otherwise be expected (short stature).[rarediseases.org]
  • Short stature/growth retardation Nearly all patients with Bartter syndrome have growth retardation. In a review of 66 patients, 62 had growth retardation, often severe (below the fifth percentile for age).[emedicine.medscape.com]
  • Short stature/growth retardation  Nearly all patients with Bartter syndrome have growth retardation. In a review of 66 patients, 62 had growth retardation, often severe (below the fifth percentile for age).[de.slideshare.net]
Sepsis
  • Sepsis screen was negative. Serum calcium was 6.9 mg/dL and urine showed hyper-calciuria (urine calcium: creatinine ratio 2.56).[sjkdt.org]
  • However, the next day, she developed signs of sepsis, was made NPO, and underwent antibiotic treatment. No abdominal concerns developed during this time.[nature.com]
Enuresis
  • Clinical findings Proximal muscle weakness, failure to thrive, short stature, convulsions, tetany, cramps, ileus, gout, mental retardation, enuresis, nocturia, polyuria, salt craving, constipation, insensitivity to angiotensin II pressor effects, normal[medical-dictionary.thefreedictionary.com]
Failure to Thrive
  • Clinical findings Proximal muscle weakness, failure to thrive, short stature, convulsions, tetany, cramps, ileus, gout, mental retardation, enuresis, nocturia, polyuria, salt craving, constipation, insensitivity to angiotensin II pressor effects, normal[medical-dictionary.thefreedictionary.com]
  • Beginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive).[ghr.nlm.nih.gov]
  • Available from: Antenatal Bartter syndrome (BS) is a rare autosomal recessive, renal tubular disorder that can lead to fetal polyuria, severe hydramnios, and premature delivery. [1] Failure to thrive, polyuria, episodes of dehydration, hypercalciuria,[sjkdt.org]
  • Affected infants may fail to grow and gain weight as would be expected based upon age and gender (failure to thrive).[rarediseases.org]
  • Symptoms include the following: Polyuria Polydipsia Vomiting Constipation Salt craving Tendency for volume depletion Failure to thrive Linear growth retardation 31.[de.slideshare.net]
Failure to Thrive
  • Clinical findings Proximal muscle weakness, failure to thrive, short stature, convulsions, tetany, cramps, ileus, gout, mental retardation, enuresis, nocturia, polyuria, salt craving, constipation, insensitivity to angiotensin II pressor effects, normal[medical-dictionary.thefreedictionary.com]
  • Beginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive).[ghr.nlm.nih.gov]
  • Available from: Antenatal Bartter syndrome (BS) is a rare autosomal recessive, renal tubular disorder that can lead to fetal polyuria, severe hydramnios, and premature delivery. [1] Failure to thrive, polyuria, episodes of dehydration, hypercalciuria,[sjkdt.org]
  • Affected infants may fail to grow and gain weight as would be expected based upon age and gender (failure to thrive).[rarediseases.org]
  • Symptoms include the following: Polyuria Polydipsia Vomiting Constipation Salt craving Tendency for volume depletion Failure to thrive Linear growth retardation 31.[de.slideshare.net]
Hypotension
  • Bartter syndrome is characterized by hyperplasia of the juxtaglomerular cells along with: hypokalemia metabolic alkalosis hypotension/normotension elevated plasma renin elevate aldosterone antenatal polyhydramnios Classification There are two subtypes[radiopaedia.org]
  • Schwartz-Bartter syndrome consists of: increased urinary osmolality, elevated urinary sodium, low serum osmolality, in a euvolemic patient, without edema, who is not hypotensive, with no renal, cardiac, adrenal, and thyroid dysfunction, and in the absence[medichub.ro]
  • Angiotensin II (ANG II) is directly vasoconstrictive, increasing systemic and renal arteriolar constriction, which helps to prevent systemic hypotension. It directly increases proximal tubular sodium reabsorption.[emedicine.medscape.com]
  • .  Angiotensin II (ANG II) is directly vasoconstrictive, increasing systemic and renal arteriolar constriction, which helps to prevent systemic hypotension.[de.slideshare.net]
  • Blood pressure can be abnormally low (hypotension) in comparison to the general population. Affected individuals often crave salt or high-salt foods. Salt craving frequently begins in childhood and is helpful in making a correct diagnosis.[rarediseases.org]
Proximal Muscle Weakness
  • Clinical findings Proximal muscle weakness, failure to thrive, short stature, convulsions, tetany, cramps, ileus, gout, mental retardation, enuresis, nocturia, polyuria, salt craving, constipation, insensitivity to angiotensin II pressor effects, normal[medical-dictionary.thefreedictionary.com]
Kidney Failure
  • Over time, some people with the condition will develop kidney failure. Call your health care provider if your child is: Having muscle cramps Not growing well Urinating frequently Potassium wasting; Salt-wasting nephropathy Guay-Woodford LM.[medlineplus.gov]
  • Kidney function is also normal if the disease is treated, [2] but occasionally patients proceed to end-stage kidney failure.[en.wikipedia.org]
  • Also, the differential diagnosis must take into account the hyponatremia associated with volemic expansion with urine sodium less than 20 mEq/l from acute or chronic kidney failure.[medichub.ro]
  • Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. 2001 Nov. 29(3):310-4. [Medline]. García-Nieto V, Flores C, Luis-Yanes MI, Gallego E, Villar J, Claverie-Martín F.[emedicine.medscape.com]
  • Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. Nov 2001;29(3):3104. [Medline]. García-Nieto V, Flores C, Luis-Yanes MI, Gallego E, Villar J, Claverie-Martín F.[de.slideshare.net]
Renal Insufficiency
  • In general, neither Bartter syndrome nor Gitelman syndrome typically leads to chronic renal insufficiency.[msdmanuals.com]
  • Renal Transplantation    Bartter and Gitelman syndromes, by themselves, do not lead to chronic renal insufficiency; however, in patients with these syndromes who develop endstage renal disease (ESRD) for other reasons, transplants from living relatives[de.slideshare.net]
Cesarean Section
  • Spontaneous rupture of membranes occurred, and the infant was delivered 36 h later by emergent Cesarean section secondary to placental abruption. The infant weighed 920 g and had Apgar scores of 7 and 8 at 1 and 5 min, respectively.[nature.com]

Workup

  • Clinical Testing and Workup Laboratory tests that are used to diagnose these disorders include blood tests to determine serum electrolyte levels, specifically potassium, chloride, bicarbonate, magnesium, renin, and aldosterone levels and urine tests to[rarediseases.org]
  • The classification is as follows (see Etiology, Presentation, and Workup ) [5] : Classic Bartter syndrome and Gitelman syndrome - The first type involves dysfunction in the thick ascending limb of the loop of Henle (TALH) or distal convoluted tubule ([emedicine.medscape.com]
  • Workup    Approach Considerations The severity and site of the mutation determines the age at which symptoms first develop.[de.slideshare.net]

Treatment

  • Solomon RJ, Brown RS: Bartter's syndrome: New insight into pathogenesis and treatment. Am J Med 1975;59:575-583. Crossref 32.[jamanetwork.com]
  • Standard Therapies Treatment The treatment of the Bartter syndromes is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists.[rarediseases.org]
  • After initially being NPO during the indomethacin treatment, the infant resumed feedings, and her indomethacin was changed to oral. However, the next day, she developed signs of sepsis, was made NPO, and underwent antibiotic treatment.[nature.com]
  • Treatment consists of NSAIDs, potassium-sparing diuretics, low-dose ACE inhibitors, and electrolyte replacement. Bartter syndrome and the more common Gitelman syndrome result from deranged sodium chloride reabsorption.[msdmanuals.com]
  • With early treatment of the electrolyte imbalances, the prognosis for patients with classic Bartter Syndrome is good. History [ edit ] The condition is named after Dr. Frederic Bartter, who, along with Dr.[en.wikipedia.org]

Prognosis

  • Prognosis If recognised early and treated aggressively, children with Bartter syndrome can achieve near-normal growth and intellectual development.[medical-dictionary.thefreedictionary.com]
  • With early treatment of the electrolyte imbalances, the prognosis for patients with classic Bartter Syndrome is good. History [ edit ] The condition is named after Dr. Frederic Bartter, who, along with Dr.[en.wikipedia.org]
  • The degree of disability depends on the severity of the receptor dysfunction, but the prognosis in many cases is good, with patients able to lead fairly normal lives.[emedicine.medscape.com]
  • With early treatment of the electrolyte imbalances the prognosis is good. Bone age is appropriate for chronological age, and pubertal and intellectual development are normal with treatment.[de.slideshare.net]
  • A dose of 1 to 5 mg per kg per day is usually recommended. 4, 9 Observation for potential side effects including spontaneous intestinal perforation is critical, particularly in the premature neonate. 4, 9 The prognosis of neonates with antenatal Bartter[nature.com]

Etiology

  • An etiology of Bartter syndrome that is usually known as autosomal dominant hypocalcemia or autosomal dominant hypoparathyroidism has been described.[emedicine.medscape.com]
  • Etiology Defects in either the sodium chloride/potassium chloride cotransporter or the potassium channel affect the transport of sodium, potassium, and chloride in the thick ascending limb of the loop of Henle (TALH).[de.slideshare.net]
  • However, the patients with immune or neurological etiology are not predictably resolved after the treatment of the malignancy.[medichub.ro]

Epidemiology

  • […] potassium levels are not sufficiently replaced with replacement by mouth, aldosterone antagonists (such as spironolactone or eplerenone ) or epithelial sodium channel blockers such as amiloride can be used to decrease urinary wasting of potassium. [1] Epidemiology[en.wikipedia.org]
  • Defective Gene Clinical Type Bartter type I NKCC2 Neonatal Bartter type II ROMK Neonatal Bartter type III CLCNKB Classic Bartter type IV BSND Neonatal with deafness Bartter type IVb CLCNKB and CLCNKA Neonatal with deafness Bartter type V CaSR Classic Epidemiology[emedicine.medscape.com]
  • Epidemiology International occurrence Bartter syndrome is rare, and estimates of its occurrence vary from country to country.[de.slideshare.net]
Sex distribution
Age distribution

Pathophysiology

  • Seyberth proposed a classification of Bartter syndrome that takes into account the three main anatomic and pathophysiologic disturbances that lead to the salt-losing tubulopathy.[emedicine.medscape.com]
  • Kurtzman NA, Gutierrez LF: The pathophysiology of Bartter's syndrome. JAMA 1975;234:758-759. Crossref 29. Robson WL, Arbus GS, Balfe JW: Bartter's syndrome: Differentiation into two clinical groups. Am J Dis Child 1979;133:636-638. Crossref 30.[jamanetwork.com]
  • Homozygous patients suffer from severe hypercalciuria and nephrocalcinosis. [3] Pathophysiology [ edit ] Bartter syndrome is caused by mutations of genes encoding proteins that transport ions across renal cells in the thick ascending limb of the nephron[en.wikipedia.org]
  • Other pathophysiologic abnormalities result from excessive salt and water loss. The renin-angiotensinaldosterone system (RAAS) is a feedback system activated with volume depletion.[de.slideshare.net]
  • ., Ponticelli, C. (2010) Gitelman syndrome: pathophysiological and clinical aspects.[scindeks.ceon.rs]

Prevention

  • These drugs can prevent the secretion of aldosterone from the adrenal glands and counteract the effects of renin on the kidneys, thereby reducing potassium and acid loss.[rarediseases.org]
  • .  Angiotensin II (ANG II) is directly vasoconstrictive, increasing systemic and renal arteriolar constriction, which helps to prevent systemic hypotension.[de.slideshare.net]
  • Angiotensin II (ANG II) is directly vasoconstrictive, increasing systemic and renal arteriolar constriction, which helps to prevent systemic hypotension. It directly increases proximal tubular sodium reabsorption.[emedicine.medscape.com]

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