دانلود کتاب یادداشت‌های گام به گام برای آزمون‌های MRCP بخش ۱ و ۲

1.Chromosome 5 – APC tumour suppressor Gene – Adenomatosis Polyposis Coli : Colonic cancer 2.Chromosome 6 – HFE gene : Haemochromatosis 3.Chromosome 13 – ATP7B gene : Wilson’s disease 4.JAK STATA mutation : Primary Polycythemia rubra vera 5.Mild UDP Glucuronyl transferase deficiency : Gilbert’s syndrome 6.Absolute UDP Glucuronyl transferase deficiency : Criggler Najjar type 1 & 2 7.Peutz Jeghers syndrome – gene : Serine Threonine Kinase LKB1 or STK11 8.Haemochromatosis – Transferrin saturation is correct. The patient has haemochromatosis. Typical clinical features of this condition include secondary osteoarthritis (with hook-like osteophytes at the 2nd and 3rd digits at the metacarpophalangeal joints being pathognomonic) and a slate-grey appearance of the skin. A transferrin saturation > 55% is typical in untreated disease and this is the best marker to monitor treatment response. 9.Hypogonadotrophic hypogonadism occurs due to pituitary gland involvement in haemochromatosis. Iron deposits within the pituitary gland impair its ability to secrete gonadotropins, which leads to hypogonadotrophic hypogonadism. This condition typically presents as impotence in men and amenorrhea in women. Unfortunately, this endocrine dysfunction is not usually reversible with treatment as it’s due to permanent damage of the pituitary gland.