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Bartter's Disease

Bartter Syndrome


Presentation

  • […] in early childhood with polyuria, polydipsia with a predisposition to dehydration neonatal: presents earlier First described in 1962 by American physician Frederic Crosby Bartter (1914-1983).[radiopaedia.org]
  • Cystic fibrosis in Saudi Arabia: Common and rare presentations. Ann Trop Paediatr 1995;15:269-72. [ PUBMED ] 3. Ballestero Y, Hernandez MI, Rojo P, et al. Hyponatremic dehydration as a presentation of cystic fibrosis.[sjkdt.org]
  • In this latter case, the novel mutation was present in compound heterozygosis with p.Glu442Gly.[journals.plos.org]
  • Diagnosis Bartter syndrome is usually diagnosed in childhood based on physical examination, the symptoms present, and the results of laboratory blood and urine tests.[verywell.com]
  • Presentation is often in childhood with gastrointestinal upset, failure to thrive and polyuria.[gpnotebook.co.uk]
Fatigue
  • Bartter described this syndrome in two African-American patients: a 5 year old boy and a 25 year old man with a long history of slow growth, weakness and fatigue.[flipper.diff.org]
  • Manifestations vary depending on genotype, but growth and development may be affected and electrolyte abnormalities may cause muscle weakness, cramping, spasms, tetany, or fatigue.[merckmanuals.com]
  • Symptoms Symptoms of Bartter syndrome may include: generalized weakness and fatigue increased urination (polyuria) increased thirst (polydipsia) waking up at night to urinate (nocturia) mild dehydration craving salt muscle cramping constipation Children[verywell.com]
  • Low blood levels of potassium can cause muscle weakness, cramping, and fatigue. Continued Diagnosis and Treatment For children with symptoms of classic Bartter syndrome, a doctor will do a thorough exam along with blood and urine tests.[webmd.com]
Weight Loss
  • Neonates suspect for Bartter syndrome should be monitored closely for urine output, hydration status, weight loss and electrolyte balance. The characteristic electrolyte abnormalities include hypokalemia and metabolic alkalosis.[nature.com]
  • Finally, I will emphasize the diagnosis of anorexia nervosa can be elusive, because in contrast to most patients with loss of weight for other medical conditions (i.e. hyperthyroidism malignancy etc.) who express concern over their weight loss or alterations[omicsonline.org]
  • Postnatally, patients usually exhibit hyposthenuria and rapid weight loss. Major derangements are severe dehydration, hyponatremia, hypochloremia, hypokalaemia and metabolic alkalosis. Our case report presented all those features.[scielo.mec.pt]
Polydipsia
  • Main manifestations of BS with neonatal age: vomiting, diarrhoea, polyuria, polydipsia, signs of dehydration, with infants: hypocalcemic convulsions, paresis hypokalemic.[adc.bmj.com]
  • […] along with: hypokalemia metabolic alkalosis hypotension or normotension elevated plasma renin elevate aldosterone antenatal polyhydramnios Classification There are two subtypes of Bartter syndrome: classic: presents in early childhood with polyuria, polydipsia[radiopaedia.org]
  • Because of this, the infant will have condition known as polyuria or excessive urination and polydipsia or excessive consumption of fluids. If the infant does not receive requisite quantities of fluids, the complications could be life-threatening.[medanta.org]
  • Symptoms Symptoms of Bartter syndrome may include: generalized weakness and fatigue increased urination (polyuria) increased thirst (polydipsia) waking up at night to urinate (nocturia) mild dehydration craving salt muscle cramping constipation Children[verywell.com]
  • […] leads to an increase in prostaglandin E (PGE) Genetics inheritance pattern autosomal recessive Prognosis can slowly progress to interstitial fibrosis resulting in chronic renal failure Presentation Symptoms failure to thrive increased thirst polyuria polydipsia[medbullets.com]
Muscle Cramp
  • Calling your health care provider Call your health care provider if your child is: Having muscle cramps Not growing well Urinating frequently[coordinatedhealth.com]
  • When to Contact a Medical Professional Call your health care provider if your child is: Having muscle cramps Not growing well Urinating frequently visHeader References Chan JC, Santos F, Hand M.[nicklauschildrens.org]
  • Symptoms include: Constipation Rate of weight gain is much lower than that of other children of similar age and gender ( growth failure ) Needing to urinate more often than usual ( urinary frequency ) Low blood pressure Kidney stones Muscle cramping and[medlineplus.gov]
  • Symptoms include: Growth failure - Rate of weight gain is much lower than that of other children of similar age and gender Constipation Low blood pressure Kidney stones Muscle cramping and weakness Higher urination frequency Causes Bartter syndrome is[medanta.org]
  • Symptoms Symptoms of Bartter syndrome may include: generalized weakness and fatigue increased urination (polyuria) increased thirst (polydipsia) waking up at night to urinate (nocturia) mild dehydration craving salt muscle cramping constipation Children[verywell.com]
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]
  • Some common ones include: Constipation Frequent urination Generally feeling unwell Muscle weakness and cramping Salt cravings Severe thirst Slower than normal growth and development Antenatal Bartter syndrome may be diagnosed before birth.[webmd.com]
  • Manifestations vary depending on genotype, but growth and development may be affected and electrolyte abnormalities may cause muscle weakness, cramping, spasms, tetany, or fatigue.[merckmanuals.com]
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]
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]
Trousseau Sign
  • In addition, some affected patients may have neuromuscular irritability as manifested by a positive Chvostek /or Trousseau sign or frank tetany due to alkalosis and hypomagnesemia.[madeasy.de]
Polyuria
  • Prenatal manifestations, mainly recurrent polyhydramnios because of fetal polyuria, lead to premature delivery. After birth, polyuria leads to life-threatening dehydration. Prenatal genetic diagnosis needs an index case.[ncbi.nlm.nih.gov]
  • After birth he displayed extreme polyuria, severe renal sodium and chloride loss, and marked hypercalciuria. Five weeks after birth, his sodium chloride loss turned into renal potassium loss, along with a marked decrease in urine output.[link.springer.com]
  • Main manifestations of BS with neonatal age: vomiting, diarrhoea, polyuria, polydipsia, signs of dehydration, with infants: hypocalcemic convulsions, paresis hypokalemic.[adc.bmj.com]
  • Presentation is often in childhood with gastrointestinal upset, failure to thrive and polyuria.[gpnotebook.co.uk]
  • 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]
Nocturia
  • 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]
  • Symptoms Symptoms of Bartter syndrome may include: generalized weakness and fatigue increased urination (polyuria) increased thirst (polydipsia) waking up at night to urinate (nocturia) mild dehydration craving salt muscle cramping constipation Children[verywell.com]
  • Bartter Syndrome Symptoms The disorder can lead to a number of moderate to severe symptoms, including: Developmental delay Constipation Low blood pressure Muscle cramping Weakness and fatigue Kidney stone Polyuria or increased urination Nocturia or excessive[hxbenefit.com]
  • There may be polydipsia, polyuria, and nocturia due to hypokalemia-induced impaired renal concentrating ability. Some patients have salt craving.[madeasy.de]

Workup

  • The study was exempt from institutional review board approval because, at the time of prenatal diagnosis, amniotic fluid sampling was part of the routine diagnostic workup. RESULTS Bartter groups are presented in Table 1.[nature.com]
Magnesium Decreased
  • Gitelman syndrome is an autosomal recessive kidney disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. [1] The disorder is caused by genetic mutations resulting in[en.wikipedia.org]

Treatment

  • Search: name, specialism, conditions, treatments, tests or services Search: name, specialism, conditions, treatments, tests or services Search: name, specialism, conditions, treatments, tests or services Royal Brompton & Harefield NHS Foundation Trust[rbht.nhs.uk]
  • Pathophysiology of hypokalemia helps to identify the course of treatment. To design proper treatment for low potassium levels, the doctor needs to first find out the precise reason for the condition.[bblc.tv]
  • Infants who have severe growth failure may grow normally with treatment. Although most patients remain well with ongoing treatment, some develop kidney failure. Complications Kidney failure is a possible complication.[coordinatedhealth.com]
  • At present, there is no specific treatment that can cure the disorder.[hxbenefit.com]
  • Outlook (Prognosis) Infants who have severe growth failure may grow normally with treatment. Most patients remain well with ongoing treatment, though some develop kidney failure.[nicklauschildrens.org]

Prognosis

  • Expectations (prognosis) The long-term outlook for patients with Bartter syndrome is not certain. Infants who have severe growth failure may grow normally with treatment.[coordinatedhealth.com]
  • Prognosis If recognised early and treated aggressively, children with Bartter syndrome can achieve near-normal growth and intellectual development.[medical-dictionary.thefreedictionary.com]
  • Bartter Syndrome Prognosis The outcome varies on the basis of the age of patients and the duration of the condition. The long-term prognosis is not certain in most cases.[hxbenefit.com]
  • Outlook (Prognosis) Infants who have severe growth failure may grow normally with treatment. Most patients remain well with ongoing treatment, though some develop kidney failure.[nicklauschildrens.org]

Etiology

  • Mineralocorticoid excess Cystic fibrosis Renal Tubular Defects Category Fanconi Syndrome Bartter Syndrome Gitelman Syndrome Liddle Syndrome Defect localization Proximal tubule Thick ascending loop of Henle Distal convoluted tubule Collecting tubule Etiology[medbullets.com]
  • Twin pregnancies, fetal aneuploidy, oligohydramnios, fetal morphologic abnormalities, and cases with a clear etiology of polyhydramnios (duodenal atresia) were excluded.[nature.com]
  • […] urination Nocturia or excessive urination at night Polydipsia or increased thirst Craving salt Mild dehydration Mental retardation Bartter Syndrome Prevention There is no known preventive method that can keep the disorder from occurring as it has a genetic etiology[hxbenefit.com]
  • The previous sibling born of full term normal delivery had a history of failure to thrive during neonatal period and died of severe dehydration of unexplained etiology at the age of 1 ½ months.[jpgmonline.com]
  • However, the patients with immune or neurological etiology are not predictably resolved after the treatment of the malignancy.[medichub.ro]

Epidemiology

  • EPIDEMIOLOGY The exact prevalence of this disorder is unknown, although it likely affects about 1 per million people worldwide. Annual incidence is estimated at 1/830,000.[flipper.diff.org]
  • Introduction Clinical definition a renal tubular disorder characterized by hypokalemia hypochloremia metabolic alkalosis normotension elevated plasma renin level Epidemiology incidence rare precise incidence is unknown demographics in neonatal cases can[medbullets.com]
  • Roerig JL, Steffen KJ, Mitchell JE, Zunker C (2010) Laxative abuse: epidemiology, diagnosis and management. Drugs 70: 1487-1503. Baker EH, Sandle GI (1996) Complications of laxative abuse. Annu Rev Med 7: 127-134.[omicsonline.org]
  • Epidemiology Gitelman's syndrome is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. [ 8 ] Bartter's syndrome is rare.[patient.info]
  • […] 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]
Sex distribution
Age distribution

Pathophysiology

  • Hypokalemia pathophysiology includes studying the effect of low potassium levels on the body.[bblc.tv]
  • Novel insights into the pathophysiology, as well as the recent identification of a novel genetic cause of aBS, merit an update on this topic.[journals.lww.com]
  • Pathophysiology and clinical presentations of salt-losing tubulopathies. Pediatr Nephrol. 2015;[Epub ahead of print]. Kintu B Brightwell A. Episodic seasonal pseudo-bartter syndrome in cystic fibrosis. Paediatr Respir Rev. 2014;15:19-21. Ellison DH.[rarediseases.org]
  • […] incidence rare precise incidence is unknown demographics in neonatal cases can be suspected before birth and diagnosed soon after birth in classic cases begins around 2 years of age or younger no race or sex predilection risk factors family history Pathophysiology[medbullets.com]
  • Bartter Syndrome Pathophysiology The genetic mutations causing the syndrome reduce the sodium absorbing ability of the kidney. As a result, patients lose excessive amounts of sodium through urine.[hxbenefit.com]

Prevention

  • There is no known preventive method that can keep the disorder from occurring as it has a genetic etiology.[hxbenefit.com]
  • In younger children growth hormone may be used to prevent the short stature and prostaglandin inhibitors to decrease the elevated prostaglandin levels.[flipper.diff.org]
  • Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets[books.google.com]
  • The necessary therapy with nonsteroidal anti-inflammatory drugs (indometacin, celecoxib) drugs potassium prevents the development of complications.[adc.bmj.com]

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