Noonan syndrome how to treat?
Noonan's syndrome is a disease that is inherited, clinically manifested in the low growth of the patient, as well as in other anomalies of somatic development. The syndrome can occur sporadically, that is, accidentally, or it can be inherited in an autosomal dominant manner.
The disease can affect both men and women. According to statistics, it is detected in one child out of 8000. For the first time the disease was described by cardiologist-pediatrician J. Noonan, whose name was given to this syndrome in 1971.
Content:
- Noonan syndrome symptoms
- Causes of Noonan syndrome
- Diagnostics of the Noonan syndrome
- Treatment for Noonan syndrome
Noonan syndrome symptoms
The symptoms of Noonan syndrome are as follows:
- Low stature. Moreover, the final height in men does not exceed 1 m 62 cm, and in women 1 m 53 cm.
- Violation of the outflow of lymph from the lower extremities, which leads to the formation of edema.
- Pterygoid folds are formed along the body and on the neck.
- The growth limit at the nape is underestimated.
- Ocular hypertelorism is characteristic, that is, the organs of vision in such people are abnormally widely spaced. Often there is ptosis of the upper eyelid, that is, its ptosis. The cut of the eyes is anti-Mongoloid, the ears are set low.
- In general, the face of such patients is asymmetric, its shape is treguolite, the bridge of the nose is disproportionately wide. These external abnormalities make people with Noonan syndrome similar to each other.
- The neck in patients is short, the elbow joints are deformed in the form of hallux valgus.
- The palate is high, the bite is pathological.
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The structure and shape of individual vertebrae is disturbed, the rib cage is sunken in the distal part and protrudes in the proximal part.
- Such patients are characterized by a defect of the interventricular septum and other congenital malformations of the heart and blood vessels.
- Puberty may be normal or it may be abnormal. In girls, a late onset of menarche is often observed, or vice versa, menstruation debuts in a timely manner and fertility is observed at puberty. Possible hypoplasia of the external genitals.
- As for the sexual development of boys, they often have hypogonadism (testicular failure against the background of a low level of production of sex hormones) and cryptorchidism (delayed descent of the testicle). Often a manifestation of Noonan syndrome in men is gynecomastia, that is, an increase in the mammary glands (one or both). At the same time, secondary sexual characteristics are insufficiently developed, hair growth is scarce, and the muscles are weak.
- Probably impaired mental development.
Causes of Noonan syndrome
The causes of Noonan's syndrome are rooted in genetic mutations that can occur by chance, or can be inherited in an autosomal dominant pattern, that is, simply carrying a mutation in a parent is enough for the disease to manifest clinically in their children. At the same time, the risk that a sick child will be born is reduced to 50%. The rest, healthy children will be carriers of the gene, but they will not have clinical signs of the disease.
As a rule, the mutant gene is transmitted through the maternal line, since men are in the overwhelming majority of cases infertile, which is due to serious malformations of the reproductive system.
Diagnostics of the Noonan syndrome
There are no specific markers to define the syndrome. Therefore, predominantly the diagnosis of Noonan syndrome consists in examining the patient and identifying clinical signs in him.
Sometimes it is possible to make a diagnosis thanks to the result of a molecular genetic study. It is equally important to differentiate Noonan syndrome from Turner syndrome, Williams syndrome, Rubinstein-Teibi syndrome, etc.
Treatment for Noonan syndrome
Treatment of Noonan's syndrome primarily boils down to ridding the patient of existing heart and vascular defects. In addition, normalization of mental activity, stimulation of growth and correction of disorders in the genital area are important.
Balloon valvuloplasty is used to correct pulmonary valve dysplasia, which is often found in patients with Noonan syndrome.
Nootropic drugs, as well as vascular drugs, are used to treat mental disorders.
Stimulation of sexual development is indicated when cryptorchidism is detected. To correct hypogonadism in adolescence, chorionic gonadotropin preparations are used, and as the patient grows up, testosterone preparations.
Growth preparations are gaining more and more popularity in modern medicine, which are used to correct existing disorders in this area in patients with Noonan syndrome. Such an active introduction of growth hormones into practice is due to the available clinical data that confirm their effectiveness. Thus, some patients receiving appropriate therapy had a height higher than the average growth rate of members of a given family.
As for the prognosis for the development of the disease, it completely depends on how severe the severity of the cardiovascular disorder is.
Article author: Mochalov Pavel Alexandrovich | d. m. n. therapist
Education: Moscow Medical Institute. IM Sechenov, specialty - "General Medicine" in 1991, in 1993 "Occupational Diseases", in 1996 "Therapy".
