Bartter syndrome history and symptoms
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Main article: Bartter syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Tayyaba Ali, M.D.[2]
Overview
Bartter syndrome 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.
History and Symptoms
Bartter syndrome is an autosomal recessive disorder that often presents in childhood and may be associated with the following clinical features:
- Stunted growth and mental retardation[1][2]
- Hypokalemia
- Metabolic alkalosis
- Polyuria and polydipsia due to decreased urinary concentrating ability[1][2]
- Normal to increased urinary calcium excretion
- Normal or mildly decreased serum magnesium concentration[2]
- Hypophosphatemia in occasional patients[2][3][4], with secondary hyperparathyroidism being a possible mechanism.[4]
- Large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia).[5]
The clinical manifestations are much less pronounced in heterozygotes.
- Researchers induced mutations in the loop diuretic-sensitive sodium-potassium- chloride cotransporter (NKCC2). They found a normal range of blood pressure and fluid balance among heterozygous mice.[6]
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,[7] 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 high 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 often found. Magnesium wasting may also occur
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.
References
- ↑ 1.0 1.1 Stein JH (1985). "The pathogenetic spectrum of Bartter's syndrome". Kidney Int. 28 (1): 85–93. doi:10.1038/ki.1985.123. PMID 4046329.
- ↑ 2.0 2.1 2.2 2.3 Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC; et al. (1992). "Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes". J Pediatr. 120 (1): 38–43. doi:10.1016/s0022-3476(05)80594-3. PMID 1731022.
- ↑ Dillon MJ, Shah V, Mitchell MD (1979). "Bartter's syndrome: 10 cases in childhood. Results of long-term indomethacin therapy". Q J Med. 48 (191): 429–46. PMID 120550.
- ↑ 4.0 4.1 Sann L, David L, Bernheim J, François R (1978). "Hypophosphatemia and hyperparathyroidism in a case of Bartter's syndrome". Helv Paediatr Acta. 33 (3): 299–310. PMID 711493.
- ↑ "Bartter syndrome - Genetics Home Reference - NIH".
- ↑ Takahashi N, Brooks HL, Wade JB, Liu W, Kondo Y, Ito S; et al. (2002). "Posttranscriptional compensation for heterozygous disruption of the kidney-specific NaK2Cl cotransporter gene". J Am Soc Nephrol. 13 (3): 604–10. PMID 11856763.
- ↑ Rodriguez-Soriano J (1998). "Bartter and related syndromes: the puzzle is almost solved". Pediatr Nephrol. 12 (4): 315–27. PMID 9655365.