FAQ - HAC

 

1. What is Congenital Adrenal Hyperplasia?

The Congenital Adrenal Hyperplasia (CAH) is a genetic disease that affects the production of the hormone cortisol and the classic salt losing type there is also the change in the production of the hormone aldosterone. These hormones are essential for maintaining life. There is no cure, but with early diagnosis and correct treatment the child has normal development.

2. Which specialist is recommended for the treatment?

The specialist for the treatment of CAH is the pediatric endocrinologist. After 21 years, follow-up can be performed by a traditional endocrinologist. A transition period with the 2 specialists interchanged after the age of 18 is recommended.

3. What forms of the disease are there?

Congenital Adrenal Hyperplasia can be of 3 types:

  1. Congenital Adrenal Hyperplasia classic salt-wasting form;

  2. Congenital Adrenal Hyperplasia simple virilizing form;

  3. Congenital Adrenal Hyperplasia non-classical form.

 

4. What causes this disease?

This disease causes a defect in the production of an enzyme essential for the production of the hormone Cortisol and in the case of salt losers, also in the production of the hormone Aldosterone.

The lack of this enzyme makes the production of these hormones less than the body needs and this causes: weight loss, dehydration, low blood sugar and can lead to death if not diagnosed early.

5. How many people are born with the disease?

The incidence of people born with CAH is one for every 15,000 live births. According to the IBGE, the Brazilian population today is 211,420,416 people, so it is estimated that we have almost 14,500 people with HAC in the country.

 

6. Is there a cure for CAH?

There is no cure for CAH. But there is medicine!

Treatment with daily medications that replace insufficiently produced hormones should be used for life.

 

7. Will my child develop normally?

 

Yes! With the correct treatment, strict monitoring by an endocrinologist and use of daily medications with the appropriate doses, the child's development is normal. Some care must be taken throughout life to ensure that your treatment is carried out correctly, using medications daily, associated with a healthy diet, regular physical exercise and good hygiene habits.

8. If I become pregnant again, can my child be born with some other form of CAH?

As it is a genetic disease, the chance of the same couple having another child with the same type of CAH is 25%. There is no chance that another child will be born with a different type of CAH, but to carry the change without manifesting illness.

9. How is the treatment?

The treatment of CAH should be done throughout life, in the first months the monitoring should be monthly, then quarterly, quarterly and semi-annually in adulthood.

10. What drugs are used in the treatment?

For the replacement of CORTISOL, the medication used is of the glucocorticoid type, the following medications may be indicated: HYDROCORTISONE, CORTISONE ACETATE, OR PREDINISONE.

For patients of the classic salt-losing type, the replacement of the hormone ALDOSTERONE, the medication used is of the mineralocorticoid type, in which case FLUDROCORTISONE is indicated.

11. How to give the medicine?

The tablets can be crushed and diluted in 1 ml of water, can be presented in a teaspoon or through a syringe. For older children, we can offer the tablet to be swallowed with a little water.

We do not recommend handling or storing dilutions, nor do we indicate the dilution in the bottle, because if the child does not accept all the milk, the dose of the medication ingested will not be the dose indicated by the doctor.

 

12. How to give salt to a baby?

The amount of salt varies between 1g and 2g of salt per day, as directed by the doctor. One gram of salt is the standard quantity of restaurant sachets, if you do not have access to the sachet the reference measure is the cap of a “BIC” type pen. This dose should be given in 24 hours, that is, divided by the number of bottles the baby takes on the day. For example: if your baby takes 4 bottles a day, you can divide the amount of 1 g into 4 parts and put one part in each bottle.

Some parents divide this dosage of salt into two parts and report that babies ingest with ease, as their bodies lack sodium, the acceptance of sodium chloride (table salt) mostly carried out without difficulty.

If the baby is exclusively breastfeeding, milk the milk manually or with the help of a breast pump and offer it with salt throughout the day. Salt can also be offered with water, however, acceptance with breast milk or formula is usually greater.

13. What should I do when I forget to give the medicine?

As soon as you remember, give the missed dose and keep the next doses at the usual time. The child will hardly decompensate with the delay of a dose, but regularity guarantees the good result of the treatment.

14. If my child vomits after taking the medicine?

If vomiting has occurred within 1 hour of presenting the medication, administer the dose again.

15. In what cases should I double the dose?

 

According to medical advice, the medication Hydrocortisone, Cortisone Acetate or Prednisone should be doubled whenever the patient has a fever higher than 37.8 degrees. This dose should be doubled for 3 days after the last day of fever. In cases of physical trauma, surgeries and some dental procedures should also have the dose doubled, if in doubt, consult your endocrinologist.

The dose should be doubled, or tripled because in people without CAH in case of physical stress the normal production of Cortisol is automatically increased, as patients with CAH have this defective automatic production the medication should be increased.

For salt-losing patients the dose of Fludrocortisone should NEVER be doubled. Only cortisone acetate, hydrocortisone or prednisone.

 

16. Do I need to fold Fludrocortisone?

 

Doubling the medication should only be performed to compensate for cortisol, that is, only cortisone acetate, hydrocortisone or prednisone in case of physical stress.

Fludrocortisone is indicated for the replacement of the hormone Aldosterone that controls salt loss. It has no influence in the case of fevers or infections, therefore, it should not be bent to avoid increased blood pressure and cardiac overload.

 

17. What are the signs of dehydration? What should I do?

When your child has repeated vomiting, persistent diarrhea and signs of dry mouth, deep softness, crying without tears and dull eyes can be signs of dehydration. In that case, take to the emergency medical service and present your Emergency Card for rehydration with serum through the vein, as directed. Until the service, offer liquids such as water, juices, milk and coconut water.

18. In cases of emotional stress, should I also double the dose?

This is a subject that varies according to medical conduct, usually in childhood, medication should only be doubled in cases of physical stress, that is, when the body undergoes changes due to fevers, infections, trauma, surgery, etc., however, in adulthood when emotional stress may reflect physical disorders, the medication should be doubled according to medical advice.

19. What forms of Fludrocortisone are on the market?

Fludrocortisone mediation is known in the Brazilian market as FLORINEF, a medication produced by the Aspen laboratory.

In the absence of the drug on the market, Fludrocortisone can be handled in pharmacies from sources indicated by your doctor.

20. Where to buy the medication?

 

Each medical referral center for CAH indicates the pharmacies where medicines can be purchased. It is worth mentioning that the medication Fludrocortisone can be ordered by your doctor through the high cost pharmacies of each municipality through the Special Medication Report (LME) for the CID E25.0

 

21. Can I get the medicine from the public network?

The responsible physician must fill out the specific form of SUS called: “SPECIALIZED COMPONENT FOR PHARMACEUTICAL ASSISTANCE” - Report of request, evaluation and authorization of medicines or LME.

Along with this form, some mandatory exams must be attached according to SUS legislation ( Ordinance SAS / MS nº 16, of January 15, 2010 ). After the complete documentation you must deliver it to your local high-cost pharmacy for approval and scheduling for the periodic withdrawal of the medication. This form must be completed periodically for the renewal of new orders.

22. What happens if the medication dosage is not correct?

Strict periodic monitoring is extremely important for adjusting medication doses considering weight, height, bone age, the development of precocious puberty and especially the values ​​of hormone tests 17 OH PROGESTERONA, ANDROSTENEDIONA, TESTOSTERONA, RENINA PLASMÁTICA AND SODIUM AND POTASSIUM MINERALS, which are the markers of medication efficiency at that time.

Throughout life these medication dose values ​​will change upwards or downwards, depending on the results of blood tests, ensuring the appropriate dose for each moment of life.

Both excessive medication and insufficient medication cause changes in the patient's development, which is why the need to be followed up with a strict endocrinologist so that the doses are readjusted for life.

23. Can I give all the vaccines?

Yes, all mandatory doses in the children's calendar must be given on the dates established by the vaccination card. Always talk to your pediatric endocrinologist to find out how to proceed if your child has a fever after the vaccine.

24. Does medication cause the child to grow and gain weight more than normal?

You may have heard that excess corticosteroid increases weight, causes swelling, increases height in childhood and reduces height in adulthood and several other contraindications, but in CAH the use of corticosteroids is to replace the physiological dose , that is, to compensate for what the body does not produce to maintain its functioning in balance.

It can happen when, due to some very increased hormonal alteration, the use of corticosteroids in higher doses is required and this can generate weight gain and other changes called Cushing's Syndrome, in which case the doctor will adjust the dose to minimize it as much as possible. these contraindications. Excessive growth, on the other hand, can be a sign of treatment failure.

25. Does CAH cause a change in mood or insomnia?

There is no direct relationship in the current literature between CAH and mood disorders. However, excess doses of glucocorticoid can interfere with sleep. These and other clinical changes should always be discussed with the attending physician.

 

26. Should I avoid potassium-rich foods?

There is no restriction on the intake of any food and as in any endocrine disease healthy eating will always be more suitable.

 

27. What exams will my child need to do throughout life?

After the tests performed for the diagnosis of CAH (dosage of the enzyme 17 Hydroxyprogesterone, ACTH, dosage of cortisol, sodium and potassium, etc.) the routine tests for monitoring CAH are: SODIUM, POTASSIUM, ANDROSTENEDIONA, TESTOSTERONE, RENIN PLASMÁTICA and others at medical discretion, an X-ray of hands and wrists will be requested once a year to monitor bone age.

28. Which test indicates whether he is a salt loser?

The sodium and potassium and plasma renin activity tests assess whether the patient has salt loss.

29. At what times should I give the medication?

The medication schedule is indicated by the endocrinologist and depending on the age and type of CAH it can be divided into 2 or 3 times a day.

 

30. In the case of girls with the form of Virilizing CAH, are there surgical corrections for the appearance of the sexual organ? How is the surgery done and how many are indicated?

In girls whose degree of virilization interferes with the normal anatomy of the genitalia and urethra (urine salutation hole), surgical correction is necessary to: 1. ensure the proper functioning of the genital and urinary organs and 2. bring the aspect of the genitals closer to gender female biological. In general, the approach occurs from 6 months to 2 years. Depending on the severity and surgical technique, the correction can be performed in up to 2 or more times. In adolescence, evaluation with an Infanto-Puberal Gynecologist is recommended.

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

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