STUDY ABOUT THE INCIDENCE OF GENETIC MALADIES AND CONGENITAL MALFORMATIONS IN HUMAN POPULATIONS FROM BACAU COUNTY IN 2006

Abstract

Genetic diseases are very numerous in humans. Currently, we know about 10.000 diseases that are determined or conditioned by genetic factors. These maladies have a great diversity and affect all kinds of systems and organs therefore we could find them in every medical area. In this paperwork I have studied the frequency of genetic maladies and congenital malformation during the year 2006 for the children in Bacau County. This initiative came to support the "National Programme for prophylactic methods in genetic disorders". The results show that male children are the most affected by congenital malformations. The samples were represented by a group of male children (12 subjects) compared to a sample of 8 female subjects. We have chosen this number of subjects because it is representative for the number of male and female births during the year 2006. [PUBLICATION ABSTRACT]

Viorel MIRON1

Cristina-Daniela FARCAJ2

1D.G.A.S.P.C. Bacäu

2physical therapist

Key words: genetic diseases, congenital malformation, prophylactic

Abstract

Genetic diseases are very numerous in humans. Currently, we know about 10.000 diseases that are determined or conditioned by genetic factors. These maladies have a great diversity and affect all kinds of systems and organs therefore we could find them in every medical area.

In this paperwork I have studied the frequency of genetic maladies and congenital malformation during the year 2006 for the children in Bacau County. This initiative came to support the "National Programme for prophylactic methods in genetic disorders".

The results show that male children are the most affected by congenital malformations. The samples were represented by a group of male children (12 subjects) compared to a sample of 8 female subjects. We have chosen this number of subjects because it is representative for the number of male and female births during the year 2006.

Introduction

Genetic diseases are chronicle diseases that frequently cause physical, sensory, motor or mental disabilities. They are the cause for 75% of mentally retardation, deafness or blindness in children. The chronicle nature of many genetic diseases imply o great medical, financial and emotional burden for the patients and their families, as well as for society in general

Thus, genetic diseases represent o major public health issue that implies concrete and constructive actions towards a good diagnose and efficient prophylaxis. In this paper I have studied the frequencies of genetic maladies and congenital malformations in the year 2002 amongst the children form Bacau city in order to support The National Program for Prophylaxis of Genetic Diseases.

Presentation of the cases studied in 2006

In 2006 I have studied 4413 subjects who were patients of The County Pediatric Hospital. Amongst these 27 children were diagnosed with diverse genetic maladies and congenital malformations.

The 27 cases (see Table 1) are distributed as it follows:

* 3 cases of hemolytic anemia;

* 4 cases of mental retardation;

* 20 cases of congenital malformations.

Table 1. Distribution and frequency

From the 27 cases that we took under observation we have registered 6 deaths through the year of 2006 from the ones with congenital malformations (see table 2).

Congenital malformations are represented by a number of 27 cases that we took under observation, 18 boys and 9 girls (table 3). The diagnostics were confirmed by the physicians from The County Pediatric Hospital and other specialized clinics that the patients consulted afterwards. The cases have prenatal debut and could have been confirmed through ultrasound investigations in the last months of pregnancy and were confirmed after a specialized consult and clinical investigations. According to a study of medical statistics that took place in 2004 and was brought up by the Ministry of Health, at least 4-5 % of the children that are born in Romania present a malformation of some type, 6% being kids over the age of two and 8% are children over the age of 8.

From the total number of cases that we studied, we have found three bays with hemophilic anemia and three boys with mental retardation (table 3), cases that were confirmed by laboratory explorations.

The age group that had the highest number of cases (we are talking about the age when we found the disease, because some diseases may appear at birth, but they are later diagnosed, usually at a general check up, vaccination or a childhood disease) is the group between 0-lyear with 18 cases, followed by the group between 5-7 years (kindergarten and school) with 4 cases, the age group of over 10 years with 3 cases and the groups 3-5 years and 7-10 years, each with one case (see table 4).

The population was preponderantly rural - 14 cases, followed by those who came from Bacau city - 10 cases and other cities - 3 cases (see table 5). The rural environment "suffers" from lack of specialized medical personnel, and the medical facilities are very poorly endowed with medical equipment, beneath the minimal standards.

Congenital malformations represent the majority of the investigated cases, thus being the object of our study, as there are 20 cases of this type. In this group we include:

* Congenital malformations of the heart - 9 cases ;

* Hydrocephaly - 3 cases;

* Congenital malformations of the renal system - 3 cases;

* Congenital malformations of the fingers and toes - 2 cases;

* Microcephaly, Congenital Mega colon and Multimalformation syndrome - one case each (see table 6).

A major risk factor in malformations is the low age of the mothers, teenagers, who are at their first pregnancy. We consider the age group "12-15 years" and "16-18 years", the risk factor at this age groups being very high, - 5% for the first category and 1% for the second.

In teenage mothers we often find factors like: risky sexual behavior, unintentional pregnancy, reduced birth weight, premature birth, induced traumatism at birth, prolonged birth period, anemia, toxemia, caesarian section, uterine birth retardation, congenital malformation (1).

Boys are the most affected by congenital malformations, being represented by a sample of 12, in comparison with the girls that are represented by a sample of 8 cases (table 7).

The age group 0-lyear presents 15 cases, confirmed and reported, followed by the 5-7 years age group cu three cases, and the over 10 years age group and 7-10 age group with one case each. The 1-3 years and 3-5 years age groups do not have any representatives (see table 8).

Not by chance we observe that 0- 1 years age group is the most affected, because many congenital malformations may be diagnosed during intrauterine life through ultrasound and others right after birth. Even if there are lots of prenatal diagnostic methods, lots of pregnant women who come from the rural areas do not come on time to check ups, and the medical facilities in these areas do not poses the necessary medical equipment. Thus, 10 cases of congenital malformations come from the rural areas, 7 cases from Bacau County, and three other cases from other urban areas (table 9).

Conclusions

1. In 2006 we have discovered 27 cases of diagnosed and confirmed genetic maladies and congenital malformations in a total population of 4413 subjects who were brought at The County Pediatric Hospital.

2. The three cases of hemolytic anemia appear at the male sex, who come from the rural area, at the 0-1 years and over 10 years group ages.

3. Out of the four mentally retardation cases 3 are males and 1 female, that come from Bacau city and rural areas (3:1) and from 0-1 years (2), 3-5 years (1), 5-7 years (1) age groups.

4. The 20 cases of congenital malformations represent the majority of cases studied, and their area is very wide: Congenital malformations of the heart (9), Hydrocephaly (3), Microcephaly (1), Congenital malformations of the renal system (3), Congenital malformations of the fingers and toes (2), Congenital Mega colon (1) Multimalformation syndrome (1).

STUDIU PE POPULATHLE UMANE DIN JUDEJUL BACÄU, PRIVIND INCIDENJA BOLILOR GENETICE $1 ANOMALIILOR CONGENITALE ÎN ANUL 2006

Viorel MIRON1

Cristina-Daniela FARCAJ2

1D.G.A.S.P.C. Bacäu

2 kinetoterapeut

Cuvinte cheie: maladii genetice, malformatii cognenitale, profilaxie

Rezumat

Bolile genetice sunt numeroase. Se cunóse peste 10.000 de boli determinate sau condifionate genetic. Acestea au o mare diversitate, afecteazä orice sistem de organe si ca atare se regäsesc ìn aproape toate ramurile medicinei.

In aceastä lucrare am studiat frecvenfa maladiilor genetice si malformatiilor congenitale, pe parcursul anului 2006, pentru copii din judetul Bacäu. Aceastä iniziativa vine ìn sprijinul realizara unui Program na fiottai de profilaxie a bolilor genetice.

Bäietii sunt cei mai afectati de malformafii congenitale, fiind reprezentafi prin 12 de cazuri comparativ cu fetele care prezintä 8 cazuri. Acest raport se datoreazä si nasterii mai multor copii de sex masculin pe parcursul anului 2006.

Introducere

Bolile genetice sunt boli cronice care realizeazä frecvent un handicap fizic, senzorial, motor sau mental. Bolile genetice produc aproximativ 75% dintre cazurile severe de retard mental, de surditate sau cecitate la copil. Natura cronica a multor boli genetice implica o grea povarä medicala, financiara ci emotionalä pentru pacientii afectati ci familiile lor ca si pentru societate ìn general.

Bolile genetice reprezinta deci o problema majora de sänätate publica ce impune actiuni concrete si eficace de diagnostic si de profilaxie. In acest referat am studiat frecventa maladiilor genetice si a malformatiilor congenitale ìn anul 2006 la populatia aflata la vârsta copiläriei din judetul Bacäu venind ìn sprijinul realizärii unui Program national de profilaxie a bolilor genetice.

Prezentarea cazurilor investigate ìn anul 2006

In anul 2006 au fost investigati 4413 de subiecti la Spitalul Judefean de Pediatrie Bacäu. Dintre acestia, un numär de 27 de copii au fost diagnosticaci cu diferite maladii genetice ci malformati congenitale.

Cele 27 de cazuri (vezi tabelul nr. 1) sunt distribuite astfel:

* 3 cazuri de anemii hemolitice;

* 4 cazuri de retard mental;

* 20 de cazuri de malformati congenitale.

Din cele 27 de cazuri depistate ci confirmate s-au ìnregistrat 6 decese din rândul copiilor cu diferite malformatii congenitale (vezi tabelul nr. 2).

Malformatiile congenitale sunt reprezentate de un numär de 27 cazuri supuse cercetärii, dintre care 18 sunt bäieti ci 9 sunt fete (tabelul nr. 3). Cazurile de malformatii congenitale depistate au fost confirmate de medicii specialisti din cadmi Spitalului Judetean de Pediatrie Bacäu ci din clinici de specialitate unde au fost trimiçi ulterior. Cazurile au debut prenatal ci pot fi evidentiate prin ecografie în lunile mai mari de sarcinä ci confírmate post-natal prin consult ci investigati! de specialitate. Conform unui studiu de statistica medicala realizat pe plan national, cel putin 4-5 % dintre copii prezintä o malformatie oarecare, din care 6% sunt copii de peste doi ani ci 8% sunt copii de peste 8 ani (Ministerul Sänätätii, mai 2004).

Din numärul de 4413 subiecti investigali în anul 2006 am dépistât 3 bäieti cu anemie hemofilicä ci 3 bäieji cu retard mental (tabelul nr. 3), cazuri care au fost confírmate de examene de specialitate (examene de laborator).

Grupa de varstä cu cele mai multe cazuri (este vorba de vârsta la care s-a depistai, deoarece unele afectiuni pot apare la nasiere, dar se depisteazä târziu de obicei la un consult obisnuit, la o vaccinare sau când exista o alta boalä comuna) este cea de 0-1 an cu 18 cazuri, urmatä de grupa 5-7 ani (grädinitä ci scoalä) cu 4 cazuri, grupa de vârsta mare de peste 10 ani cu 3 cazuri ci grupele 3-5ani si 7-10 ani, flecare cu câte un caz (vezi tabelul nr.4).

Cazurile depistate pro vin în majoritate din mediul rural - 14 cazuri, urmate de cele depistate ìn municipiul Bacäu - 10 cazuri si din alte orase - 3 cazuri (vezi tabelul nr. 5). Mediul rural "suferä" de lipsa personalului sanitär, iar dotärile cabinetelor medicale din teritoriu sunt mult sub standardul necesar.

Malformatiile congenitale reprezintä majoritatea din numärul total de cazuri ce fac obiectul de studiu, fìind ìn numär de 20. In acest grup sunt incluse:

* malformaßle congenitale de cord- 9 cazuri ;

* hidrocefalia - 3 cazuri;

* malformati de sistem renai- 3 cazuri;

* malformati ale degetelor - 2 cazuri;

* microcefalia, megacolonul congenital si sindromul plurimalformativ - câte un caz (vezi tabelul nr. 6).

Un factor primar de rise pentru aparitia copiilor cu malformatii este vârsta redusä a mamei, adicä mámele tinere, adolescente, aflate la prima sarcina. Se iau ìn considerare grupele de vârsta "12-15 ani" si "16-18 ani", la care riscul de complicatii este deosebit de mare - 5% pentru prima categorie si, respectiv 1%.

La mámele adolescente apar in mai mare mäsurä factori cum ar fi: un comportament sexual cu rise, graviditatea neintenjionatä cu consecinfele respective, greutate redusä la nastere, nastere prematura, traumatism la na§tere, graviditate prelungitä, anemii, toxemii, cezariene, retardarea nasterii uterine, malformatii congenitale ìntr-o mäsurä mult mai mare decât la femeile adulte (1).

Bäietii sunt cei mai afectad de malformatii congenitale, fìind reprezentati prin 12 de cazuri comparativ cu fetele care prezintä 8 cazuri (tabelul nr. 7).

Grupa de varstä foarte micä de 0-1 an prezintä 15 cazuri depistate, confírmate si raportate, urmatä de grupa de varstä 5-7 ani cu 3 cazuri, iar grupele de varstä mare de peste 10 ani si de 7-10 ani cu câte un caz. Grupele de varstä de l-3ani si 3-5 ani nu prezinta nici un caz la care sä se fi dépistât o afectiune din grupul celor studiate (vezi tabelul nr. 8).

Nu întâmplator grupa 0-1 an este cea mai afectatä, deoarece multe malformatii congenitale pot fi diagnosticate din timpul vietii intrauterine prin ecografie, iar unele imediat dupä nastere. Chiar dacä exista posibilitan reale de diagnostic prenatal, multe gravide provin din mediul rural, nu se prezinta la timp la doctor, iar cabinetele medicale din teritoriu nu dispun de aparatura necesarä. Astfel 10 cazuri de malformati congenitale provin din mediul rural, 7 cazuri din municipiul Bacäu si 3 cazuri din alte orase din judetul Bacäu (tabelul nr. 9).

Condirai

1. In anuí 2006, au fost descoperite 27 de cazuri de maladii genetice ci malformati congenitale depistate si apoi confírmate de specialisti care au fost raportate la Autoritatea Sanitarä Bacäu dintr-un total de 4413 de subiecti supusi atentiei ìn cadmi Spitalul Judetean de Pediatrie Bacäu.

2. Cele trei cazuri de anemie hemoliticä apar la sexul masculin, ce provin din mediul rural, un caz la grupa de vârsta 0-1 an si 2 cazuri la grupa de virstà peste 10 ani.

3. Din cele 4 cazuri de retard mental sunt 3 pentru sexul masculin, respectiv 1 pentru sexul feminin, ce provin din municipiul Bacäu si din mediul rural (3:1). Au fost depistate la grupa de vârsta 0-1 an (2), 3-5 ani (1) si la grupa 5-7 ani (1).

4. Malformafiile congenitale, în numär de 20, reprezintä majoritatea cazurilor studiate, iar paleta lor este foarte larga: malformati congenitale de cord (9), hidrocefalie (3), microcefalie (1), malformati de sistem renai (3), malformafii ale degetelor (2), meagacolon congenital (l)si sindrom plurimalformativ (1).

Bibliografie

1. Astarastoaie, V., Stoica O., 1999, Probleme actúale ale genetica medicale, Universitatea de Medicina si Farmacie, Iasi.

2. Covic, M., Çtefanescu, D., Sandovici, I., 2004, Genetica medicala, Polirom, Iasi.

3. David A.-M., 2006, Studiulfrecvenfei unor maladii genetice si a unor malformati congenitale ìn populafii umane dinjudeful Bacäu (tezà de doctorat), Universitatea "Al. I. Cuza" - Facultatea de Biologie, Iasi.

4. Gavrilä, L., 2004, Genomul uman, Ed. Ali, Bucuresti.

5. Ghiorghitä G.I., 1999, Bazele genetica, Ed. Alma Mater, Bacäu.