practice 29/07 (FAD pseudo cushing)

FAP (gene type)

Familial adenomatous polyposis is inherited in an autosomal dominant pattern with high penetrance.

FAP ( extracolonic manifestation )

Extracolonic manifestations of FAP include duodenal polyps, desmoid tumours, and congenital hypertrophy of retinal pigment epithelium

First degree relative of FAP patient screening

• First-degree relatives of FAP patients should undergo genetic testing and colonoscopy screening starting from age 12-14 years.

pseudo-Cushing's

pregnancy, depression, alcohol dependence, morbid obesity, and poorly-controlled diabetes

Midnight salivary cortisol

• Midnight salivary cortisol is less useful in the presence of disrupted circadian rhythm.

Metformin dose adjustment with the change of renal function

A reduced maximum adult dose is suggested for patients with stable renal function:

CrCl 60–90 mL/minute, 2 g daily.

CrCl 30–60 mL/minute, 1 g daily.

CrCl 15–30 mL/minute, 500 mg daily.