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21.09.2005:
   21.09.2005

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TREATMENT OF CONGENITAL SYNDROMIC PATHOLOGY PATIENTS WITH AMINO ACID COMPOUNDS.

O.E. Blinnikova, Cand. Sc. (Med.), neuropathologist;
N.A. Dyomina, neuropathologist, Honored Physician of R.S.F.S.R.
1997

INTRODUCTION

Treatment of congenital pathology, in particular, of the group of monogenic diseases has definite restrictions due to the stability of the altered hereditary cell apparatus. As yet, no effective therapy methods have beeen developed to treat the majority of inherited illnesses. Different types of symptomatic therapy, surgical correction of developmental defects and rehabilitation methods are used most frequently. In osteogenesis imperfecta the use of a highly efficient set of somatotropic hormone, calcitrine, vitamin D and its active metabolites, phosphorus preparations as well as antioxidants combined with orthopedic operations is indicated (2). Patients suffering from hereditary pathology that is manifested as oligophrenia are administered stimulating therapy, sets of vitamins and microelements.

Pathogenetic approaches to the treatment include dietetic therapy in inherited metabolic defects, that is, exclusion or restriction of those substances contained in the food the concentracion of which in blood is too high. According to the Genetics Division of the Pediatrics and Children's Surgery Institute, a stabilization or significant improvement in the course of the main desease as a result of symptomatic and pathogenetic treatment was observed in 67.9% of children with rickets-like hereditary diseases; in 58.4% with hereditary diseases of the connective tissue, and in 58.8% with phenylketonuria. Complete absence of any effect was observed in 5.2%, 7.9% and 41.2%, respectively (2).

Progress in the field of the genetic therapy of hereditary illnesses is accelerating, yet prospects of its wide application are not predictable for the years to come (1). In this connection, new approaches of pathogenetic therapy appear to be of utmost importance.

MATERIAL AND STUDY METHODS

The method of treatment with amino acid compounds developed by A.P. Khokhlov and co-authors is used to correct motor, mental and speech subnormality. Amino acid compounds act at the cellular level eliminating excess calcium, normalizing the transmembranic transport of sodium and potassium ions, increasing the GABA level, stimulating neuron repolarisation and changing the dopamine level. The above-mentioned drugs have a potent nootropic effect, they reduce spasticity, exert an antispasmodic, sedative and diuretic effect, eliminate extrapyramidal symptoms and decrease aggression. The method of treating with amino acid compounds was tested on a group of patients with inherited disorders.

20 patients suffering from hereditary syndromic pathology from 14 families, including four pairs of sibs, have been treated with amino acid drugs. Their age varied between 2 and 13 years. In 8 cases the diagnosis had been made before the patients were admitted to the Primavera Medica Center, and in 10 cases it was made by ourselves.

The range of nosologic manifestations covered the following syndromes:

  • Sotos syndrome (2 patients)
  • Tel-Hashomer syndrome (2)
  • Williams syndrome (1)
  • Cohen syndrome (2)
  • Seckel syndrome (1)
  • fragile X-chromosome syndrome (2)
  • X-attached mental retardation (2)
  • Stickler syndrome (1)
  • incontinentia pigmenti /Bloch-Sulzberger syndrome/ (1)
  • Rubinstein-Taybi syndrome (2)
  • congenital hypothyreosis (1)
  • tuberous sclerosis (1) as well as a syndrome with unclear aetiology
  • Rett syndrome

The main objective in patients with X-attached mental retardation, fragile X-chromosome syndrome, inborn hypothyreosis, Cohen and Williams syndromes was to correct mental deficiency, speech retardation and attentional disorders; this group of patients lacked any neurological symptoms. Clinical manifestations of another group of patients were, besides oligophrenia, different degrees of coordination disturbances, muscular tonicity changes, epileptic seizures and other neurological manifestations.

STUDY RESULTS

The results of treatment are presented in Tab. 1.

Tab. 1. Dynamics of clinical changes in the treatment with amino acid preparations

NOSOLOGICAL FORMS

TREATMENT RESULTS

1st course
2nd course
3rd course

X-attached mental retardation

S.A., 9

S.S., 8

(sibs)

Fragile X-chromosome syndrome

S.D., 7

P.S., 7

Inborn hypothyreosis

I.A., 7

Seckel syndrome

B.S., 6

Cohen syndrome

Sh. Yu., 10

S.M., 14

Tuberous sclerosis

Sch. S., 8

Williams syndrome

K.S., 12

Sotos syndrome

U.D., 2

Sh. Yu., 5

Rubinstein-Taybi syndrome

Ch.A., 2

P. E., 4

Stickler syndrome

I.P., 9

Incontinentia pigmenti syndrome

S.N., 6

Tel-Hashomer syndrome

P.M., 13

P.T., 10

Rett syndrome

P.K., 9

B.S., 5

Vt ++

Vt +

Gl Ne

Am Vt

Vt Am ++

Vt +++

Am

Ne

Vt ++

Am Vt +

Ne Am

Vt Cr

Am

Vt +

Cr

Am

Vt +

Vt

Am -

Ne

Vt

Am ++

Gl Gl

Am Vt +++

Cr

Gl Ac +

Am Gl

Ne

Gl

Am +

Vt +

Am

Am ++

Vt

Vt

Am +++

Ne

Vt

Am +

Cr

 

Vt +

Gl

 

Am Am Am +

Ne Ol

Vt

Am

Vt +

Vt

Gl +

Vt +

Gl

Vt ++

Am

Ne

Am

Ne

Vt

Gl Ne

Vt Vt +++

Am Cr

Gl Ne +++

Am Vt

Gl Gl ++

Am Ne

Cr

Vt

Gl ++

Ne

Vt Ne

Ne Nr +

Am

Am Ne -

Cr

NOTE: + = minor changes in the clinical picture;

++ = moderate positive changes;

+++ = marked positive dynamics, new quality in desease progress;

- = absence of positive changes;

Am = Aminovil; Gl = Glucaprim; Vt = Vitamixt; Cr = Cerebron; Ne = Neoprim;

Ol = Oldarin; Ac = Aminocomposit; Nr = Neurovit.

The most pronounced positive results were evidenced in a patient with the Williams syndrome (elf's face syndrome), aged 12: clear-cut signs of social adaptation - appearance of conscious communication with children, telephone conversations, self-awareness in a given situation. During the first course of treatment no changes in his condition were observed, but 3 weeks after course completion there was some improvement of coordination and speech. During the second course improvement of short-time memory, shifting of attention and increased vocabulary were recorded.

No less meaningful dynamics was revealed in two girls aged 5 and 2 with the Sotos syndrome (cerebral gigantism). In both of them normalization of the muscular tone, improved coordination and gait of the elder girl and the first independent steps of the younger girl, significant positive dynamics in speech development (first words and phrases of the 2-year old patient and the use of new word combinations and phrases of the 5-year old girl were noted).

In the process of treatment with amino acid preparations both sibs with X-attached mental subnormality and 2 unrelated patients with fragile X-chromosome syndromes showed improved attention concentration, minor motor activity, handwriting, the wish to draw as well as better assiduity.

The girl with congenital hypothyreosis who completed 3 courses of treatment developed maximum changes, in particular, greater progress at school, more rapid sensomotor responses as compared with the 1st course. Non-manifest positive changes occurred in patients with the Seckel and the Cohen syndromes (these changes manifested themselves between the courses) and with the Rett syndrome. Two girls with the Rett

syndrome had a decreased frequency and duration of cramp fits; there was some reduction in autism and periodically recurrent interest in the environment.

A boy suffering from tuberous sclerosis aged 8 had classic skin manifestations in the form of multiple depigmented spots, seborrheic dermatitis on the face, brain calcifications and convulsions in his medical history. IQ was 91-110, changes that required correction included emotional-volitional disturbances, neurotic reactions, unstable attention, work efficiency and a low level of cognitive activity.

During the 1st course no essential clinical changes were observed.

CONCLUSION

Thus, children with various monogenic syndromal nosological manifestations differing in the heredity mode (3 syndromes with autosomal-dominant inheritance, 6 with autosomal-recessive, 2 with X-atached recessive and 1 with X-attached dominant, lethal for male hemizygotes), differing in pathogenic mechanisms (unestablished in the great majority of cases), and in the degree of the illness progression were treated with amino acid compounds. In most cases there was a positive dynamics of the clinical picture that varied only in the rate of appearance of changes and the degree of their manifestation. It is impossible, however, to make more definite conclusions on the effectiveness of treatment of specific syndromes with amino acid drugs because of the small amount of sampling, its incidence in a population and short periods of treatment. But the available data hold the promise of a successful use of amino acid preparations in treating patients with congenital pathologies.

REFERENCES (in Russian)

Bochkov, N.P. Genetic technologies in pediatrics. Journal Pediatrics, 1995, No. 4, pp. 21-26.

Kazantseva, L.Z. Main aspects of management of hereditary diseases in child age. Journal Pediatrics, 1989, No. 1, pp. 31-36.


 
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