Sökning: "pseudohypoaldosteronism type 1"

Hittade 2 avhandlingar innehållade orden pseudohypoaldosteronism type 1.

1. 1. Clinical and genetical studies in cystic fibrosis and pseudohypoaldosteronism

   Författare :Charlotta Schaedel; Lund Pediatrik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; pseudohypoaldosteronism type 1; cystic fibrosis transmembrane conductance regulator CFTR ; Cystic fibrosis; pulmonary disorder; Pediatrics; epithelial sodium channel ENaC; Pediatri;

   Sammanfattning : Cystic fibrosis (CF) is the most common severe autosomal recessive disorder among Caucasians and is caused by mutations of the chloride channel, CFTR (cystic fibrosis transmembrane conductance regulator) gene. Despite a markedly improved median survival many CF patients still die at a young age. LÄS MER

3. 2. Genetic factors in primary hypertension- with emphasis on renal sodium reabsorption

   Författare :Olle Melander; Malmö Institutionen för kliniska vetenskaper; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Endokrinologi; diabetology; secreting systems; Endocrinology; alpha-adducin; Gitelman´s syndrome; Liddle´s syndrome; insulin resistance; genetics; intrauterine growth; salt sensitivity; Primary hypertension; essential hypertension; sekretion; diabetologi; Cardiovascular system; Kardiovaskulära systemet;

   Sammanfattning : Genetic factors are of importance for the development of primary hypertension (HT). Intrauterine growth retardation, salt sensitivity and insulin resistance are all characteristic features of individuals prone to develop HT. LÄS MER