What Is Bartter Syndrome
Bartter syndrome is a rare autosomal recessive inherited disorder. Bartter syndrome often occurs in childhood, mainly manifested as growth retardation, hypokalemia, metabolic alkalosis, polyuria, polydipsia, etc., and may include increased urine calcium and mild increased blood magnesium, without hypertension.
Bartter's syndrome is currently considered to be related to renal tubular reabsorption dysfunction due to congenital genetic defects. For patients with unexplained hypokalemia, metabolic alkalosis, renin and aldosterone increase without hypertension, the possibility of Bartter syndrome should be considered after the common etiology is ruled out. However, gene testing is required to confirm the diagnosis and determine whether there is any gene mutation.
Bartter syndrome requires lifelong medication to correct electrolyte disorders and reduce the adverse effects on the body of increased renin, aldosterone, and prostaglandins.
What Is The Cause Of Bartter Syndrome
Bartter syndrome is an autosomal recessive disorder in which if one parent has the disease and the other carries the causative gene, the child may develop the disease or carry the causative gene. A genetic defect that causes damage to transporters in the renal loop of Henle involved in sodium chloride reabsorption. It can simply be understood that certain functions of the kidney are impaired as a result of genetic defects which are inherited from both parents. However, the parents themselves are not necessarily suffering from Bartter's syndrome.
What Are The Symptoms Of Bartter Syndrome
Bartter syndrome generally occurs in childhood and is mainly manifested as the following:
- Physical and mental developmental delay.
- Hypokalemia, manifested as fatigue, easy to fatigue, muscle weakness, can have lower limb paralysis, and even dysphagia, dyspnea, often accompanied by metabolic alkalosis.
- Hypokalemia leads to arrhythmia, which is manifested as palpitation, rapid heartbeat and disorderly jump of heart.
- Abnormal urine concentration function, manifested as increased urine volume, polydipsia, drinking water.
- Normal or low blood pressure.
- Normal or low blood magnesium.
- There may be increased urine calcium.
In fact, according to the different genetic defects, Bartter's syndrome can be further divided into Type I, Type II, Type III, Type IV and Type V. Each type of Bartter's syndrome shows slightly different manifestations.
- Types I and II: Bartter Syndrome in types I and II is more severe and manifests abnormally early in life, leading to excessive amniotic fluid during pregnancy and premature birth, which may result in fetal death or death in the neonatal period.
- Type III: Bartter Syndrome of type III, is the most common and less severe and does not develop until later in life.
- Type IV: Bartter Syndrome in type IV is also more severe and may show abnormalities in the fetal stage, or even stillbirth, and the coexistence of birth and survival in children is often accompanied by deafness.
- Type V: Bartter Syndrome of type V is less severe and occurs at a later age, often with hypocalcemia and hypomagnesemia.
What can Bartter Syndrome cause?
- Impaired renal function
- Rephrogenic diabetes insipidus
How To Check For Bartter Syndrome
What tests should be performed when diagnosing Bartter Syndrome?
- Blood draw: electrolytes, blood gas analysis, renin and aldosterone were checked. Patients with Bartter syndrome present with decreased blood potassium, normal or low blood magnesium, normal or low blood phosphorus, metabolic alkalosis, and increased renin and aldosterone.
- Urine test: A single morning and 24-hour urine samples were collected. Patients with Bartter syndrome present with decreased urine specific gravity, increased 24-hour urine volume, increased 24-hour urine potassium, and normal or high 24-hour urine calcium.
- Gene testing: Although gene testing can confirm Bartter's syndrome, it is rarely used due to the complexity and high cost of testing. In fact, the doctor can basically make a diagnosis of Bartter's syndrome by asking the medical history, checking the blood and urine, and excluding other diseases that lead to hypokalemia, and it is not necessary to carry out genetic tests to confirm the diagnosis.
What diseases or conditions are more similar to Bartter Syndrome?
- Side effects of diuretics: improper use of diuretics will cause hypokalemia and other conditions, which can be improved after drug discontinuation.
- Self-emesis: Self-emesis is often carried out in secret. The patient may hide the illness from the doctor, but patients with long-term self-emesis often have scars on the back of hand, teeth eroded by gastric acid, parotitis, etc. Of course, the absence of these characteristics does not rule out self-induced vomiting. Autoemesis and Bartter's syndrome can be distinguished by the determination of urinary chlorine, which is low in the former and high in the latter.
- Gitelman Syndrome: Gitelman syndrome is also an autosomal recessive genetic disorder that manifests as hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalcuria, and normotensive. Bartter syndrome occurs at a later age and is usually diagnosed in late childhood or adulthood. To distinguish Bartter's syndrome from Gitelman's syndrome, urine calcium can be measured, with normal or elevated urine calcium in Bartter's syndrome and low urine calcium in Gitelman's syndrome.
- Side effects of aminoglycoside antibiotics: Representative drugs of aminoglycoside antibiotics include gentamicin and amikacin. Its side effects include hypokalemia, metabolic alkalosis, hypomagnesemia, and hypercalciuria, and it can be improved 2–6 weeks after drug discontinuation.
- EAST Syndrome: EAST syndrome is a rare hereditary disease occurring in infancy, with major manifestations including epilepsy, motor dysfunction, deafness, hypokalemia, metabolic alkalosis, and normotensive.
How To Prevent Bartter Syndrome
Bartter Syndrome is currently not preventable. Patients with Bartter Syndrome with reproductive needs can visit relevant institutions for genetic counseling.
How To Treat Bartter Syndrome
Ask: Which department of the hospital usually go to for Bartter syndrome?
Answer: Patients with Bartter syndrome can go to the endocrinology department and nephrology department for treatment.
Ask: Do people with Bartter syndrome have to go to the hospital?
Answer: You must see a doctor as soon as possible. Because of the hypokalemia caused by Bartter syndrome, it not only causes weakness and paralysis, but also causes arrhythmia, and severe cases may lead to sudden death. Therefore, if hypokalemia is found, seek medical attention as soon as possible.
How To Treat Bartter Syndrome?
- Non-steroidal anti-inflammatory drugs+potassium-sparing diuretics: Non-steroidal anti-inflammatory drugs include aspirin and indomethacin. Potassium-sparing diuretics include spironolactone and amiloride.
- Angiotensin inhibitor: angiotensin inhibitor is an adjuvant drug for the treatment of Bartter syndrome and may not be needed in all patients.
- Potassium supplement therapy: Through the application of non-steroidal anti-inflammatory drugs+potassium retention diuretics, blood potassium in a small number of patients can be restored to normal, and the rest of the patients whose blood potassium is still low can be additionally treated with potassium supplement therapy, such as oral administration of potassium chloride tablets. Patients with type V Bartter syndrome also require magnesium supplementation.
- Renal transplantation: Medical reports of renal transplantation are scarce because Bartter's syndrome is inherently rare. At present, renal transplantation is only used in patients with Bartter's syndrome who develop end-stage renal disease.
- Treatment of hydramnios during pregnancy: Type I, II, and IV Bartter syndrome are serious types, and the child has abnormal manifestations before birth, which can lead to hydramnios and premature birth during pregnancy. The possibility of fetal Bartter syndrome needs to be considered when a pregnant woman presents with excessive amniotic fluid without a definite cause, and the diagnosis can be assisted by detecting the concentration of chlorine in the amniotic fluid, with an increased concentration of chlorine suggestive of Bartter syndrome or congenital chlorine diarrhea. If the hydramnios is more severe, the pregnant woman may be given nonsteroidal anti-inflammatory drug therapy until 31 weeks of gestation.
What Are The Common Side Effects Of Medications Used To Treat Bartter Syndrome?
- Non-steroidal anti-inflammatory drugs: Stomach upset, gastritis, peptic ulcer, gastrointestinal bleeding, renal dysfunction.
- Spironolactone: Impotence, hyposexuality, male breast development, female menstrual irregularities.
- Amiloride: Headache, fatigue, impotence, gastrointestinal discomfort, hyperuricemia.
- Angiotensin inhibitor: Dry cough, hypotension.
- Potassium chloride: Nausea, vomiting, pharyngeal discomfort, chest pain, abdominal pain, diarrhea, peptic ulcer, and bleeding.
- Magnesium agent: Diarrhea.
Does Bartter Syndrome Require Hospitalization? What To Pay Attention To During Hospitalization?
- Hospitalization is required while Bartter syndrome is being treated. The purpose of hospitalization is to perfect various examinations, confirm the diagnosis and make appropriate treatment plan. Later, you can have follow-up and follow-up visits in the outpatient department.
- It may be necessary to keep 24-hour urine samples during hospitalization. It is best not to leave the ward during the urine retention period. If going out for examination, you should take the urine bucket with you and keep all the urine in the urine bucket. During the period of urine should pay attention to appropriate to drink more water, to ensure that the urine sample enough.
Can Bartter Syndrome Be Completely Cured?
- Bartter Syndrome cannot be cured. Symptoms such as hypokalemia can only be corrected by medication and require lifelong treatment.
Does Bartter Syndrome Cause Death?
- Severe Bartter syndrome may lead to death. The types I, II, and IV of Bartter Syndrome are all serious types, and the child has abnormal manifestations before birth, which can lead to hydramnios and premature delivery during pregnancy and may die in the womb or in the neonatal period.
- In addition, Bartter's syndrome is mainly characterized by hypokalemia, which can lead to arrhythmias, cardiac arrest and sudden death.
What Should Patients With Bartter Syndrome Pay Attention To In Life
What Should Patients With Bartter Syndrome Pay Attention To In Life?
- Patients need to take medicine on time, do not stop taking it at will, and go to hospital for reexamination regularly according to doctor's advice.
- When the patient presented with such symptoms as fatigue and palpitation, it indicated that the blood potassium might be on the low side, and he should visit a doctor in time.
Does Bartter Syndrome Affect Fertility?
- Bartter syndrome can affect fertility. Reproduction can be affected by either Bartter syndrome itself or by medications used to treat Bartter syndrome. It is recommended that patients with Bartter Syndrome have adequate communication with their doctor in advance if they are planning to give birth.
What Should Patients With Bartter Syndrome Take Note Of In Their Diet?
- There is no special taboo on diet, and a healthy and balanced diet is enough.
- Pay attention to less salt when cooking, less oil, less high salt seasoning, eat less pickled vegetables, pickled meat, etc.
- Don't only eat rice and noodles as the staple food, but use coarse grains, miscellaneous beans, potatoes, pumpkins, etc. to replace some of the staple foods.
- Reasonable collocation of meat and vegetable, meat preferred chicken, duck, fish and other white meat, eat less fat, eggs and milk is an important source of protein and other nutrients.
- If you are a vegetarian, you can eat more beans and soy products to supplement protein.
- Eat more fruits and vegetables.
- Try not to drink.