<unk>  was first discovered by<unk>  et al.and introduced in a seminal paper in the December issue of the American Journal of Medicine in 1962. Authors in the paper reported two pediatric patients with growth and developmental delay associated with hypokalemic alkalosis and normal blood pressure despite high aldosterone production. The syndrome named after<unk> . This disease was observed in children as well as in adults, females as well as males.Authors described in the paper that this disease is characterized by hypokalemia, metabolic alkalosis, hyperreninemia, secondary hyperaldosteronism, and normal blood pressure.Bartter Syndrome can be classified into five different types based on genotype.<unk>  can result from homozygous or mixed heterozygous mutations in any of the genes. Thus, affecting the function of genes responsible for synthesis or membrane insertion of the transporters in the ascending limb of the loop of Henle.<unk>  types 1, 2, and 4 present at a younger age. They present with symptoms, often quite severe in the neonatal period.<unk>  type 3 also called classic<unk>  present later in life and maybe sporadically asymptomatic or mildly symptomatic. The thick ascending limb of the loop of Henle is not permeable to water and reabsorbs a large proportion of the filtered sodium chloride as shown in the figure, which leads to interstitial hypertonicity that powers the countercurrent exchange and urinary concentration mechanisms. In case of impairment of this function, a major loss of water and sodium occurs, as seen with loop diuretics.Bartter syndrome is a renal tubular salt-wasting disorder in which the kidneys cannot reabsorb sodium and chloride in the thick ascending limb of the loop of Henle. Impairment of sodium and chloride reabsorption is the primary defect in the<unk>  that initiates the cascade. This leads to increased delivery of salt to the distal tubules and excessive salt and water loss from the body. The resultant volume depletion causes activation of the renin-angiotensin-aldosterone system (RAAS) and subsequent secondary hyperaldosteronism. Long-term stimulation causes hyperplasia of the juxtaglomerular apparatus and elevates renin levels. Excessive distal delivery of sodium follows by sodium (Na) reabsorption in the distal convoluted tubule. Na reabsorption exchange with the secretion of positively charged potassium or hydrogen ion and leads to increased loss of potassium (K+) in urine and increased hydrogen (H+) secretion. Decreased chloride (Cl-) reabsorption decreases the exchange with bicarbonate (HCO3-). Thus, increased bicarbonate retention and hypokalemia result in metabolic alkalosis. Calcium and magnesium reabsorb in the ascending limb of the loop of Henle as a result of a positive electrochemical gradient in the lumen created by the back leak of K+ ion in the lumen, drives passive paracellular sodium, calcium, and magnesium reabsorption as shown in the figure. The defective sodium chloride transport in the ascending limb of the loop of Henle associated with<unk>  leads to the impaired electrochemical gradient leading to increased urinary loss of calcium and magnesium. This leads to the development of nephrocalcinosis in<unk> .<unk>  can be caused by mutations in at least five genes. Mutations in the SLC12A1 gene cause type I. Type II results from mutations in the KCNJ1 gene. Mutations in the CLCNKB gene are responsible for type III. Type IV can result from mutations in the<unk> ND gene or from a combination of mutations in the CLCNKA and CLCNKB genes as shown in the table. Aminoglycoside can induce<unk>  presenting with severe hypokalemia, metabolic alkalosis, and profound systemic manifestations.<unk>  diagnosis should be differentiated from other diseases manifesting with hypokalemia and hypochloremic metabolic alkalosis such as Gitelman syndrome, EAST syndrome also is known as SeSAME syndrome, Diuretic abuse, cyclical vomiting, Hyperprostaglandin E syndrome(HPS), Familial hypomagnesemia, cystic fibrosis, Gullner syndrome, Mineralocorticoid excess, Activating mutation of the calcium-sensing receptor (CaSR) gene, Hypomagnesemia is often associated with hypokalemia, hypocalcemia, and metabolic alkalosis, Congenital chloride diarrhea, Hypochloremic alkalosis and Hypokalemia. Prolonged hypokalemia can lead to impaired ability of kidneys to concentrate urine, increased bicarbonate reabsorption. The prevalence of<unk>  is approximately 1 in 1,000,000 individuals. The annual incidence of the syndrome has been estimated at 1.2 per million people. According to a review of twenty-eight patients with<unk>  during the years 1964-1986 who were followed for an average of 10 years, their mean age at the time of diagnosis was 32.9 years. These patients were observed to have short stature than normal subjects.<unk>  usually occurs in childhood.<unk>  type I and type II are salt-wasting renal tubular disorders that are clinically characterized by polyhydramnios leading to premature delivery, marked polyuria, and a tendency towards nephrocalcinosis. Common complications of<unk>  include Gallstones, Rhabdomyolysis, Prolonged QT interval, Life-threatening arrhythmia, Syncope, Sudden death, weakening of the bones and Renal failure. The limited prognostic information available suggests that early diagnosis and appropriate treatment of infants and young children with classic<unk>  (type 3) may improve growth and perhaps neuro-intellectual development. On the other hand, sustained hypokalemia and hyperreninemia can cause progressive tubulointerstitial nephritis, resulting in end-stage renal disease (Kidney failure). With the early treatment of the electrolyte imbalances, the prognosis for patients with Classic<unk>  is good. Patients with<unk>  type I and II tend to present a satisfactory prognosis after a median follow-up of more than 10 years.<unk>  is an autosomal recessive disorder that often presents in childhood and may be associated with stunted growth, mental retardation, hypokalemia, metabolic alkalosis, polyuria and polydipsia, normal to increased urinary calcium excretion, normal or mildly decreased serum magnesium concentration, hypophosphatemia and hypercalciuria. Laboratory findings such as Hypokalemia, Metabolic alkalosis, Elevated plasma renin and aldosterone, Elevated urine potassium and chloride, Low serum and urine magnesium levels. Abdominal radiographs and intravenous pyelograms (IVPs) can be done to document nephrocalcinosis. Polyhydramnios and intrauterine growth retardation are seen on ultrasound with the neonatal<unk> . There are no echocardiographic findings associated with<unk> . Genetic analysis is required to make an accurate diagnosis. Amniotic fluid chloride concentration ranged from 114 to 123 mEq/L has been reported in four newborns<unk>  patients. In<unk> , a biopsy of the kidney typically shows redundant growth of kidney cells called the juxtaglomerular apparatus. However, this is not found in all patients, especially in young children. Prostaglandin synthetase inhibitors suppress the production of prostaglandin. Potassium chloride supplements are given for hypokalemia. Spironolactone, Amiloride, Triamterene, Angiotensin-converting enzyme (ACE) inhibitors, Nonsteroidal drug anti-inflammatory drugs (NSAID) are given to patients for the treatment of<unk> . Growth hormone (GH) is given for growth retardation. Calcium or magnesium supplements are given for muscle spasm and tetany. Bilateral nephrectomy and kidney transplantation have been performed successfully, in two patients with severe neonatal<unk> .
Bartter syndrome
Dykes-Markes-Harper syndrome
Fabry's disease
Baraitser-Reardon syndrome
Marfan's syndrome
McLeod syndrome
CANDLE syndrome
Sneddon-Wilkinson disease