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Andersen-Tawil syndrome – a case report

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Wójcik-Borowska K., Chrościńska-Krawczyk M., Zienkiewicz E., Małka M., Klatka M.

Neurologia Dziecięca

2018

vol. 27

issue 54

71-73

Zespół Andersen-Tawil (Andersen-Tawil syndrome – ATS, long QT syndrome type 7, LQTS Type 7) jest rzadko występującą kanałopatią potasową, spowodowaną głównie mutacją genu KCNJ2. Część przypadków spowodowana jest mutacją genu KCNJ5. Mutacja dziedziczona autosomalnie dominująco jest wykrywana u około 60% pacjentów z rozpoznanym zespołem. Około 30% mutacji może być spowodowanych de novo. Obraz kliniczny obejmuje triadę objawów: okresowe, napadowe osłabienie siły mięśniowej występujące po dłuższym spoczynku lub w trakcie spoczynku po intensywnym wysiłku fizycznym, wydłużenie odstępu QT wraz z zaburzeniami rytmu serca i cechy dysmorficzne (m.in. niski wzrost, hypoteloryzm, hipoplazja żuchwy, krótkie palce rąk i stóp). Duża zmienność fenotypowa oraz często subtelne objawy kliniczne powodują trudności diagnostyczne. Jednak wczesne rozpoznanie jest kluczowe ze względu na możliwości zapobiegania i leczenia objawów neurologicznych oraz zaburzeń rytmu serca, które mogą być przyczyną nagłego zgonu. Celem pracy jest przedstawienie przypadku 15 letniego pacjenta z zespołem Andersen-Tawil.

Andersen-Tawil syndrome is a rare potassium ion channelopathy. Mutations in KCNJ2 are the primary cause. The second causative gene is KCNJ5. Mutations inherited as an autosomal dominant characteristic, are usually found in 60% of patients with the diagnosed syndrome. De novo mutations occur in 30% of cases. The clinical presentation of the syndrome includes: periodic, paroxysmal muscular weakness occurring after prolonged rest or during rest after prolonged physical exertion, prolonged QT interval, cardiac arrhythmias and dysmorphic features (short stature, hypertelorism, hypoplastic mandible, short fingers and toes). Phenotypic heterogeneity and subtle physical symptoms cause diagnostic difficulties. However, early diagnosis is crucial because of the possibility of prevention and treatment of neurological symptoms and cardiac arrhythmias, which can be the cause of sudden death. The aim of this paper is to present the case report of a 15-year-old patient with Andersen-Tawil syndrome.

Male infertility and human environmental pollution

100%

Kołłątaj W., Kołłątaj B., Karwat D. I., Klatka M., Kozyra K., Zukow W., ojs o., Muszkieta R., Gozhenko E. A., adm a., Gozhenko A., Badiuk N. S., Zukow W., Szulc A., Gozhenko A. I., Gozhenko A. I., Gozhenko A. I., Badiuk N. S., Gotowski R., ojs o., Zukow W., adm a., Muszkieta R., Zukow W., Badiuk N. S., Gozhenko A., Gozhenko E. A., Gozhenko A. I., Gozhenko A. I., Gozhenko A. I., Badiuk N. S., Szulc A., Gotowski R.

vol. 7

issue 4

Introduction. Man is the only being that has created an artificial environment, or civilization. The development of civilization entails changes in the environment. The rapid growth of the impact of human economic activity has led to such changes that are able to threaten not only other living creatures but also themselves. Increasing environmental pollution are well-known factors negative influencing on human environment. Is now a global problem. Anthropogenic pollution contribute to the unfavorable demographic changes and grooving number of health problems of the population. Unfavourable demographic changes manifest themselves as not only increment in the number of deaths and malformations (defects in the reproductive organs), but also as decrement in the fertility rates being the consequence of increasing the growing problem of couples infertility. There is observed the increasing role of male factor in the couple infertility problem. In some developed countries its participation rate reaches 50%.Objective. The aim of the study is to assess the impact of environmental pollution on human development and reproductive function of male gonads.Material and methods. The study was carried out using the method of data analysis published in the works and scientific reports.Current state of knowledge. The paper presents information on identified environmental pollution with proven adverse effects on the development of the gonads and the their reproductive function. There are also known possible negative impacts of environmental pollution on carcinogenesis in male gonads.Wider awareness of the negative impact of environmental pollution and attempts put emphasis on primary prevention can give better long-term effects than increasing spending on the therapies of developmental disorders as well as gonadal dysfunctions symptoms including fertility problems.Conclusions.Among the environmental pollutants there are many chemicals adversely affecting the organogenesis as well as reproductive function of testicles.Many of these contaminants are pesticides or chemicals currently approved for use in agriculture and industry, including the food and cosmetics industry.Those chemicals, adversely affecting organogenesis and testicular generative function, are present in air, water and foods, packaged foods and everyday objects - including clothes (ingredients sponges), perfumes, creams and detergents.The increase in environmental pollution coincides with the deterioration of sperm quality and reduction in male infertility in highly civilized countries.Striving for continuous reduction of the environmental seems to be necessary to stop the growing problem of couples infertility.

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Andersen-Tawil syndrome – a case report

Male infertility and human environmental pollution