Bartter Syndrome - Follow-Up
Follow-Up
Further Inpatient Care:
- For patients initially diagnosed in the hospital, the goal is to stabilize the patient sufficiently for discharge. This includes stabilization of potassium and other electrolytes, volume, and, perhaps, acid-base parameters.
Further Outpatient Care:
- Patients initially need frequent outpatient follow-up care until the metabolic abnormalities caused by the renal tubular transporter mutation are stabilized with medications.
- The length of time to stability depends on the severity of the mutation and the degree of patient compliance.
Complications:
- Nephrocalcinosis: A review of 61 cases of Bartter syndrome reported 29 with nephrocalcinosis. This is often associated with hypercalciuria.
- Sensorineural deafness
- Sensorineural deafness associated with Bartter syndrome IV is due to defects in the barttin subunit of the ClC-Ka and CIC-Kb channels.
- The ClC-Kb channel is found in the basolateral membrane of the TALH, while the ClC-Ka and ClC-Kb subunits are found in the basolateral membrane of the marginal cells of the cochlear stria vascularis.
- In the inner ear, a Na-K-2Cl pump, called NKCC1, on the basolateral membrane increases intracellular levels of sodium, potassium, and chloride. Potassium excretion across the apical membrane against a concentration gradient produces the driving force for the depolarizing influx of potassium through the ion channels of the sensory hair cells required for hearing. The sodium ion is excreted across the basolateral membrane by the Na-K-ATPase pump, and the ClC-K channels allow the chloride ion to exit to maintain electroneutrality.
- Mutations in only the ClC-Kb subunit causes Bartter syndrome without sensorineural deafness (Bartter syndrome III).
- Renal failure
- Renal failure is fairly uncommon in Bartter syndrome.
- In a review of 63 patients, 5 developed progressive renal disease requiring dialysis or transplantation.
- In 2 reports of patients who underwent biopsies before developing ESRD, 1 patient had interstitial nephritis, and the other had mesangial and interstitial fibrosis.
- One report relates the case of a patient developing reversible acute renal failure from rhabdomyolysis due to hypokalemia.
- Short stature/growth retardation
- Nearly all patients with Bartter syndrome have growth retardation. In a review of 66 patients, 62 had growth retardation, often severe (below the fifth percentile for age).
- Treatment with potassium, indomethacin, and GH has been effective.
Prognosis:
- Bartter and Gitelman syndromes are both autosomal recessive disorders. Neither is curable.
- The degree of disability depends on the severity of the receptor dysfunction.
- Gitelman syndrome is often not diagnosed until adolescence or early adulthood.
- Prognosis in many cases is good, with patients able to lead fairly normal lives.
Patient Education:
- Patients and their parents must understand that no cure exists for the constellation of mutations that causes these syndromes.
- This chronic condition requires taking medications consistently, as prescribed, which is often difficult for children and adolescents.
- Patients tend to become volume depleted if they are sodium and water restricted. Adequate fluid and electrolyte replacement should be available, especially in hot weather and during exercise.
- Both Bartter and Gitelman syndromes are autosomal recessive disorders, ie, mutations are required on each allele in the chromosome pair. Offspring carry at least 1 mutated allele. In consanguineous marriages or between closely related families, genetic counseling might be advisable.
- For excellent patient education resources, visit eMedicine's Growth Hormone Deficiency Center. Also, see eMedicine's patient education articles Growth Hormone Deficiency, Growth Failure in Children, Growth Hormone Deficiency in Children, and Growth Hormone Deficiency FAQs.
Miscellaneous
Medical/Legal Pitfalls:
- Failure to offer renal transplantation to patients with Bartter or Gitelman syndromes who develop ESRD
- Failure to consult with a nephrologist or pediatric nephrologist whenever a patient fitting the clinical picture of Bartter or Gitelman syndrome is found
- Failure to provide outpatient follow-up care until the metabolic abnormalities caused by the renal tubular transporter mutation are stabilized with medications
- Failure to provide treatment for patients with short stature or growth retardation
- Failure to provide adequate patient education regarding the syndrome
Special Concerns:
- Pregnancy
- Reports associated with pregnancy are limited because Bartter syndrome is a rare disease.
- Complications related to electrolyte loss (hypokalemia, hypomagnesemia) responded well to supplementation. Fetuses were unaffected and carried to term.
- In Rudin's report of 28 patients, no problems were noted except asymptomatic hypokalemia. In another study of 40 patients, 30 reported normal pregnancies and terminated by normal parturition; however, many of the patients who were pregnant probably had Gitelman syndrome.
- Anesthesia
- The multiple biochemical abnormalities present in patients with Bartter syndrome may present a challenge to anesthesiologists when general anesthesia is used.
- Potential problems include difficulties in fluid and electrolyte management, acid-base abnormalities, and a decreased response to vasopressors.
- Renal function must be monitored carefully, and dose adjustments must be made for drugs dependent on renal excretion if renal function declines.
- Metabolic alkalosis has also been reported to alter drug protein binding for some anesthetic agents.
- Patients with Bartter syndrome may also have platelet dysfunction if routinely treated with nonsteroidal anti-inflammatory agents.
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Synonyms And Related Keywords
salt-wasting disorder, salt-losing nephropathy, Gitelman syndrome, hyperplasia, juxtaglomerular complex, chloride channel, hyperaldosteronism, hypokalemic metabolic alkalosis, hypercalciuria, hypomagnesemia, nephrocalcinosis, kidney transplant, kidney transplantation, renal transplant, renal transplantation, end-stage renal disease, ESRD, growth hormone, GH, short stature, growth failure, growth retardation, renin-angiotensin-aldosterone system, RAAS
