Bartter's syndrome

Bartter syndrome

A rare disorder of early onset, which may be seen in dwarfism; it is characterised by potassium-wasting, normotensive hyperreninaemia, hyperaldosteronism, and vascular hyporesponsiveness to endogenous pressors (e.g., norepinephrine, angiotensin II) attributed to increased prostaglandin E.
 
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 blood pressure.
 
Lab
Metabolic alkalosis, decreased serum K+, increased urine K+, increased renin, increased aldosterone.

DiffDx
Prolonged nasogastric suctioning, habitual vomiting, diuretic abuse.
 
Management
Potassium loading, spironolactone to block aldosterone effects.
 
Prognosis
If recognised early and treated aggressively, children with Bartter syndrome can achieve near-normal growth and intellectual development.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
Childhood Bartter's syndrome: An Indian case series.
Chondrocalcinosis is a feature of Gitelman's variant of Bartter's syndrome. A new look at the hypomagnesemia associated with calcium pyrophosphate dihydrate crystal deposition disease.
Idiopathic rICP has been reported in several studies and also as a complication of a list of drugs, including chlordecone (kepone), ketoprofen or indomethacin in Bartter's syndrome, thyroid replacement therapy in hypothyroid children, tetracycline and its derivatives, amiodarone, hypervitaminosis A, lithium carbonate, nalidixic acid, sulfa antibiotics and risperidone.
It is different from Bartter's syndrome, in which hypokalemic metabolic alkalosis may develop without primary renal disease.
(6.) Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB, Yale Gitelman' sand Bartter's Syndrome Collaborative Study Group.
It is important to differentiate GS from classic Bartter's syndrome which is also characterized by hypokalemia, renal potassium wasting, and activation of the renin-angiotensin-aldosterone axis [8].
Hypokalaemia: Bartter's syndrome or pseudo-Bartter's syndrome?
Elyas suffered from Bartter's Syndrome, a kidney condition, which meant he needed to be given large amounts of sodium and potassium though a nasal tube, to prevent rapid dehydration.
A urine chloride can be used to distinguish between diuretic abuse and vomiting from Bartter's syndrome. All of these patient conditions produce hypokalemia, metabolic alkalosis, hyhperreninemia, and hyperaldosteronism.
Molecular genetics has played a key role in nephrology, particularly in determining the genetic origins of single gene disorders including polycystic kidney disease, cystinuria, Alport's syndrome, Bartter's syndrome, and various renal neoplasms (George & Neilson, 2000).
Successful management of an extreme example of neonatal hyperprostaglandin-E syndrome (Bartter's syndrome) with the new cyclooxygenase-2 inhibitor rofecoxib.
Four teen-month-old Elyas Nasserulddin Albana, from Tyseley, suffered from Bartter's Syndrome, a kidney condition, which meant he needed large amounts of sodium and potassium every day to prevent rapid dehydration.