Bartter syndrome

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Bartter syndrome Classification and external resources
ICD-10	E26.8
ICD-9	255.13
OMIM	601678 241200 607364 602522
DiseasesDB	1254
eMedicine	med/213  ped/210
MeSH	D001477

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Overview

Bartter syndrome is a rare inherited defect in the thick ascending limb of the loop of Henle. It is characterized by low potassium levels (hypokalemia), decreased acidity of blood (alkalosis), and normal to low blood pressure. There are two types of Bartter syndrome: neonatal and classic. A closely associated disorder, Gitelman syndrome, is milder than both subtypes of Bartter syndrome. The condition is named after Dr Frederic Bartter, who first described it in 1962.^[1]

Features

In 90% of cases, neonatal Bartter syndrome is seen between 24 and 30 weeks of gestation with excess amnionic fluid (polyhydramnios). After birth, the infant is seen to urinate and drink excessively (polyuria, and polydipsia, respectively). Life-threatening dehydration may result if the infant does not receive adequate fluids. About 85% of infants dispose of excess amounts of calcium in the urine (hypercalciuria) and kidneys (nephrocalcinosis), which may lead to kidney stones. In rare occasions, the infant may progress to renal failure.

Patients with classic Bartter syndrome may have symptoms in the first two years of life, but they are usually diagnosed at school age or later. Like infants with the neonatal subtype, patients with classic Bartter syndrome also have polyuria, polydipsia, and a tendency to dehydration, but normal or just slightly increased urinary calcium excretion without the tendency to develop kidney stones. These patients also have vomiting and growth retardation. Kidney function is also normal if the disease is treated,^[2] but occasionally patients proceed to end-stage renal failure. bartter's syndrome consists of hypokalaemia,alkalosis,normal blood pressues ,and elevated plasma renin and aldosterone.numerous causes of this syndrome probably exist.diagnostic pointers include hugh urinary potassium and chloride despite low serum values , increased plasma renin, hyperplasia of the juxtagloerular apparatus on renal biopsy, and careful exclusion of diuretic abuse .excess production of renal prostaglandins is oftenfound. magnesium wasting may also occur

Diagnosis

People suffering from Bartter syndrome present symptoms which are identical to those of patients who are on loop diuretics like furosemide.

The clinical findings characteristic of Bartter syndrome are hypokalemia, metabolic alkalosis, and normal to low blood pressure. These findings may also be caused by:

• Chronic vomiting: These patients will also have low urine chloride levels
• Abuse of diuretic medications (water pills): The physician must screen urine for multiple diuretics before diagnosis is made.
• Magnesium deficiency: These patients will also have low serum and urine magnesium

Patients with Bartter syndrome may also have elevated renin and aldosterone levels.^[1]

Pathophysiology

Bartter syndrome is caused by mutations of genes encoding proteins that transport ions across renal cells in the thick ascending limb of the nephron.^[2] Bartter and Gitelman syndromes can be divided into different subtypes based on the genes involved: neonatal Bartter's syndrome is caused by mutations of NKCC2 or ROMK, classic Bartter's syndrome by mutations of ClC-Kb, Bartter's syndrome associated with sensorineural deafness is due to mutations of BSND, Gitelman's syndrome to mutations of NCCT and Bartter's syndrome associated with autosomal dominant hypocalcemia is linked to mutations of CASR.^[3]

Treatment

While patients should be encouraged to include liberal amounts of sodium and potassium in their diet, potassium supplements are usually required, and spironolactone is also used to reduce potassium loss. Nonsteroidal antiinflammatory drugs (NSAIDs) can be used as well, and are particularly helpful in patients with neonatal Bartter's syndrome. Angiotensin-converting enzyme (ACE) inhibitors can also be used.

Prognosis

The limited prognostic information available suggests that early diagnosis and appropriate treatment of infants and young children with Classic Bartter Syndrome may improve growth and perhaps neurointellectual development. On the other hand, sustained hypokalemia and hyperreninemia can cause progressive tubulointerstitial nephritis, resulting in end-stage-renal disease (Kidney failure). With early treatment of the electrolyte imbalances the prognosis for patients with Classic Bartter Syndrome is good.

Epidemiology

History

Bartter syndrome was first described in an article by Bartter et al in 1962.^[1]

Related conditions

• Bartter and Gitelman syndromes are both characterized by hypokalemia, normal to low blood pressure, and hypochloremic metabolic alkalosis.^[4]

References

External links

• The Bartter Site
• synd/2328 at Who Named It

v • d • e Endocrine pathology: endocrine diseases (E00-35, 240-259)
Thyroid	Hypothyroidism (Iodine deficiency, Cretinism, Congenital hypothyroidism, Goitre, Myxedema) - Hyperthyroidism (Graves disease, Toxic multinodular goitre, Teratoma with thyroid tissue or Struma ovarii) - Thyroiditis (De Quervain's thyroiditis, Hashimoto's thyroiditis, Riedel's thyroiditis) - Euthyroid sick syndrome
Pancreas	Diabetes mellitus (type 1, type 2, coma, angiopathy, ketoacidosis, nephropathy, neuropathy, retinopathy) - Hypoglycemia - Hyperinsulinism - Zollinger-Ellison syndrome - insulin receptor (Rabson-Mendenhall syndrome)
Parathyroid	Hypoparathyroidism (Pseudohypoparathyroidism) - Hyperparathyroidism (Primary, Secondary, Tertiary)
Pituitary	Hyperpituitarism (Acromegaly, Hyperprolactinaemia, SIADH) - Hypopituitarism (Simmonds' disease/Sheehan's syndrome, Kallmann syndrome, Growth hormone deficiency, Diabetes insipidus) - Adiposogenital dystrophy - Empty sella syndrome
Adrenal	Cushing's syndrome (Nelson's syndrome, Pseudo-Cushing's syndrome) - CAH (Lipoid, 3β, 11β, 17α, 21α) - Hyperaldosteronism (Conn syndrome, Bartter syndrome) - Adrenal insufficiency (Addison's disease) - Hypoaldosteronism
Gonads	ovarian dysfunction (Polycystic ovary syndrome, Premature ovarian failure) - testicular dysfunction (5-alpha-reductase deficiency) - testosterone biosynthesis (17-beta-hydroxysteroid dehydrogenase deficiency) - general (Hypogonadism, Delayed puberty, Precocious puberty)
Other	Androgen insensitivity syndrome - Autoimmune polyendocrine syndrome - Carcinoid syndrome - Gigantism - Short stature (Laron syndrome, Psychogenic dwarfism) - Multiple endocrine neoplasia (1, 2) - Progeria - Woodhouse-Sakati syndrome

v • d • e WikiDoc Research Resources for Bartter syndrome
Articles on Bartter syndrome	Most recent articles on Bartter syndrome • Most cited articles on Bartter syndrome • Review articles on Bartter syndrome • Articles on Bartter syndrome in N Eng J Med, Lancet, BMJ
Media (Slides, Video, Images, MP3) on Bartter syndrome	Powerpoint slides on Bartter syndrome • Images of Bartter syndrome • Photos of Bartter syndrome • Podcasts & MP3s on Bartter syndrome • Videos on Bartter syndrome
Evidence Based Medicine Regarding Bartter syndrome	Cochrane Collaboration on Bartter syndrome • Bandolier on Bartter syndrome • TRIP on Bartter syndrome
Cost Effectiveness of Bartter syndrome	Cost Effectiveness of Bartter syndrome
Clinical Trials Involving Bartter syndrome	Ongoing Trials on Bartter syndrome at Clinical Trials.gov • Trial results on Bartter syndrome • Clinical Trials on Bartter syndrome at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding Bartter syndrome	US National Guidelines Clearinghouse on Bartter syndrome • NICE Guidance on Bartter syndrome • NHS PRODIGY Guidance • FDA on Bartter syndrome • CDC on Bartter syndrome
Textbook Information on Bartter syndrome	Books and Textbook Information on Bartter syndrome
Pharmacology Resources on Bartter syndrome	Dosing of Bartter syndrome • Drug interactions with Bartter syndrome • Side effects of Bartter syndrome • Allergic reactions to Bartter syndrome • Overdose information on Bartter syndrome • Carcinogenicity information on Bartter syndrome • Bartter syndrome in pregnancy • Pharmacokinetics of Bartter syndrome •
Genetics, Pharmacogenomics, and Proteinomics of Bartter syndrome	Genetics of Bartter syndrome • Pharmacogenomics of Bartter syndrome • Proteomics of Bartter syndrome
Newstories on Bartter syndrome	Bartter syndrome in the news • Be alerted to news on Bartter syndrome • News trends on Bartter syndrome
Commentary on Bartter syndrome	Blogs on Bartter syndrome
Patient Resources on Bartter syndrome	Patient resources on Bartter syndrome • Discussion groups on Bartter syndrome • Patient Handouts on Bartter syndrome • Directions to Hospitals Treating Bartter syndrome • Risk calculators and risk factors for Bartter syndrome
Healthcare Provider Resources on Bartter syndrome	Symptoms of Bartter syndrome • Causes & Risk Factors for Bartter syndrome • Diagnostic studies for Bartter syndrome • Treatment of Bartter syndrome
Continuing Medical Education (CME) Programs on Bartter syndrome	CME Programs on Bartter syndrome
International Resources on Bartter syndrome	Bartter syndrome en Espanol • Bartter syndrome en Francais
Business Resources on Bartter syndrome	Bartter syndrome in the Marketplace • Patents on Bartter syndrome
Informatics Resources on Bartter syndrome	List of terms related to Bartter syndrome

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