What is Bartter’s Syndrome?
Bartter’s Syndrome is an inherited defect in the renal tubules that causes low potassium levels, low chloride levels, which in turn causes metabolic alkalosis. Bartter Syndrome, is not a single disorder but rather a set of closely related disorders. These Bartter-like syndromes share many of the same physiologic derangements, but differ with regard to the age of onset, the presenting symptoms, the magnitude of urinary potassium (K) and prostaglandin excretion, and the extent of urinary calcium excretion.
What is Antenatal Bartter Syndrome ?
In contrast to Classic Bartter Syndrome and Gitelman Syndrome, the Antenatal variant of Bartter Syndrome has both the features of metabolic alkalosis (from the low potassium), as well as profound systemic manifestations. Out of all of the variants this form is the most severe.
Antenatal Bartter Syndrome is characterized by polyhydraminos (Increased water in the uterus) due to polyuria in utero (Which means the fetus has urinated so much it has led to an increase in the fluid in the uterus. For this reason the infant is usually born premature.
What is Gitelman’s Syndrome ?
Gitelman’s syndrome is a rare inherited defect in the renal tubule of the kidneys. This defect causes the kidney to waste magnesium, sodium, potassium and chloride in the urine, instead of reabsorbing it back into the bloodstream. Urine calcium levels are lower than normal, despite normal serum values. This syndrome does not cause kidney failure nor does it cause the kidneys to function abnormally. The kidneys are normal. The problem is the reabsorption of important electrolytes and minerals.
Antenatal Bartter Syndrome, Information for Healthcare Workers
In contrast to Classic Bartter Syndrome and Gitelman Syndrome, the Antenatal variant of Bartter Syndrome has both the features of renal tubular hypokalemic alkalosis as well as profound systemic manifestations. Antenatal Bartter Syndrome is characterized by polyhydraminos due to intrauterine polyuria, and premature delivery is common. After birth, life-threatening episodes of fever and dehydration occur secondary to profound polyuria, vomiting, and diarrhea.
Severe electrolyte imbalances and marked growth retardation are typical. The majority of these infants also have severe hypercalciuria with associated nephrocalcinosis and osteopenia. Biochemically, these patients are distinguished by marked stimulation of renal and systemic prostaglandin E2 production. Cyclooxygenase inhibitors,eg, Indomethacin, have been shown to reverse all the clinical and laboratory derangements, save for those related to calcium homeostasis.
Gitelman Syndrome, Information for Healthcare Workers
History
Gitelman’s Syndrome was discovered in 1966 by Dr Hillel Gitelman. It was discovered that some patients with Bartter’s showed a different myriad of symptoms. Gitelman’s syndrome is also a renal salt wasting disorder but the defective tubule is in the thiazide-sensitive Na-Cl cotransporter in the distal convoluted tubule(DCT). Both disorders are associated with hypokalemia, renal potassium wasting, activation of the renin-angiotensin-aldosterone axis, and normal blood pressure. Unlike patients with Bartters, patients with Gitelman’s syndrome have hypomagnesemia, increased urinary magnesium, and decreased calcium excretion.
Gitelman Syndrome, Orphanet Journal of Rare Diseases
Gitelman syndrome
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands,
Orphanet Journal of Rare Diseases 2008, 3:22doi:10.1186/1750-1172-3-22
Nine VAM Knoers and Elena N Levtchenko,
The electronic version of this article is the complete one and can be found online at: http://www.ojrd.com/content/3/1/22
© 2008 Knoers and Levtchenko; licensee BioMed Central Ltd.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian populations, making it one of the most frequent inherited renal tubular disorders. In the majority of cases, symptoms do not appear before the age of six years and the disease is usually diagnosed during adolescence or adulthood.
Hypokalemic Periodic Paralysis
Index of suspicion. Case 3. Hypokalemic periodic paralysis
This section of Pediatrics in Review reminds clinicians of those conditions that can present in a misleading fashion and require suspicion for early diagnosis. Emphasis has been placed on conditions in which early diagnosis is important and that the general pediatrician might be expected to encounter, at least once in a while.
Hypokalemia, or Low Potassium
By Shawna Kopchu R.N.
Hypokalemia refers to a below normal serum potassium concentration. It usually indicates a real deficit in total potassium stores; however, it may occur in patients having normal potassium stores when alkalosis is present (since alkalosis causes a temporary shift of serum potassium into the cells).
Hypokalemia is frequently encountered in clinical medicine and has been estimated to occur in approximately 20% of patients admitted to general internal medicine service. Symptoms may be absent, identified only on routine electrolyte screening, or may range from neuromuscular weakness, rarely progressing to frank paralysis or sudden cardiac death. Usually correction of hypokalemia is not difficult, but if therapy is not appropriate, symptoms may worsen with potentially severe, even lethal, consequences.
Gitelman Disease Associated with Growth Hormone Deficiency
Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: a new hereditary renal tubular-pituitary syndrome?
Gitelman disease was diagnosed in two unrelated children with hypokalemic metabolic alkalosis and growth failure (a boy and a girl aged 7 mo and 9.5 y, respectively, at clinical presentation) on the basis of mutations detected in the gene encoding the thiazide-sensitive NaCl cotransporter of the distal convoluted tubule. GH deficiency was demonstrated by specific diagnostic tests in both children. Hypertonic saline infusion tests showed a partial vasopressin deficiency in the girl and delayed secretion of this hormone in the boy.
Evidence for a tubular defect in the loop of Henle
Impaired response to furosemide in Hyperprostaglandin E syndrome: Evidence for a tubular defect in the loop of Henle
In hyperprostaglandin E syndrome (HPS) renal wasting of electrolytes and water is consistently associated with enhanced synthesis of prostaglandin E2 . In contrast to Bartter or Gitelman syndrome (BS/GS), HPS is characterized by its severe prenatal manifestation, leading to fetal polyuria, development of polyhydramnios, and premature birth. This disorder mimics furosemide treatment with hypokalemic alkalosis, hypochloremia, isosthenuria, and impaired renal conservation of both calcium and magnesium. Therefore the thick ascending limb of the loop of Henle seems to be involved in HPS.