Cystic Fibrosis in India- Need for Study

نویسندگان

  • Pramila Menon
  • Krishnadas Menon
  • Mrudula Phadke
چکیده

Cystic fibrosis in earlier days was described as “Cystic fibrosis of Pancreas” in a child. The word cystic fibrosis was coined due to the characteristic cysts and fibrosis found in the pancreas. It was a leading cause of mortality in the people of northern Europe in the 16th century. In the early years of cystic fibrosis, it was known that if the fingers of the child tasted salty after rubbing the forehead, it was going to die soon. The classical description of cystic fibrosis was first reported in a child by Andersen [1], Physician and Pediatric pathologist in 1938. The inheritance of cystic fibrosis was described as an autosomal recessive by Lowe et al. [2]. Farber recognized that the sticky mucus caused many of the symptoms and, hence, labeled it as “Mucoviscidosis” in 1945 [3].

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Positive Expiratory Pressure (PEP) versus Conventional Chest Physiotherapy in Pediatric Patients with Acute Exacerbation of Cystic Fibrosis

Background Pulmonary involvement is the main cause of mortality in cystic fibrosis (CF). Airway clearance techniques are non-pharmacological complement options for CF patients. The aim of this study was to evaluate the short-term outcome of airway cleaning treatment in patients with cystic fibrosis in a children's hospital. Materials and Methods This clinical trial study conducted on 40 CF pati...

متن کامل

Molecular screening of R117H mutation in non caucasian cystic fibrosis patients in the north of Iran

Cystic fibrosis is an autosomal recessive disease caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator protein. These mutations that correlate with different phenotypes, vary in their frequency and distribution in different populations. In this study missense mutation R117H that associated with the different clinical symptoms wa...

متن کامل

Analysis of CFTR Gene Mutations in Children with Cystic Fibrosis, First Report from North-East of Iran

 Objective(s):  More than 1500 registered mutations in cystic fibrosis transmembrane regulator (CFTR) gene are responsible for dysfunction of an ion channel protein and a wide spectrum of clinical manifestations in patients with cystic fibrosis (CF). This study was performed to investigate the frequency of a number of well-known CFTR mutations in North Eastern Iranian CF patients. Material and...

متن کامل

Identification of Dermatoglyphic Patterns in Parents of Children with Cystic Fibrosis

Background Dermatoglyphics could assist in the diagnosis of congenital abnormalities. The aim of this study was to identify the dermatoglyphic patterns (finger print pattern type, total ridge count of each finger, a-b ridge count, and articulotrochanteric distance [ATD angles]) in the parents of cystic fibrosis children. Materials and Methods We recruited 75 parents of children with cystic fibr...

متن کامل

Investigation of Growth of Microorganisms within the Spacers of Children with Cystic Fibrosis

Background and aim: Cystic fibrosis is a monogenic disorder in several systems. Since spacers used by these patients may be used several times a day, many of them do not know how to wash and use them, so these devices are good places for bacteria to grow. Therefore, this study was performed to identify and determine the relationship between the growth of microorganisms inside spacers and the ef...

متن کامل

Prevalence of Cystic Fibrosis Trans-membrane Conductance Regulator Gene common mutations in children with cystic fibrosis in Isfahan, Iran

Background: Cystic fibrosis (CF) is the most common lethal genetic disorder of Cystic Fibrosis Trans-membrane Conductance (CFTR) Regulator gene mutations. We aimed to investigate common mutations in CF patients and to assess its possible relationship with clinical presentations. Materials and Methods: This cross sectional study was conducted on 36 CF patients who were referred to a tertiary ped...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2017