MICROANATOMY

Detailed explanation-1: -Familial hypocalciuric hypercalcemia (FHH) is a rare autosomal dominant condition. It occurs as a result of mutations in the calcium-sensing receptor gene (CASR) that lead to decreased receptor activity. Patients typically have mild hypercalcemia, hypocalciuria, hypermagnesemia, and hypophosphatemia.

Detailed explanation-2: -Familial hypocalciuric hypercalcemia (FHH) is an inherited disorder that causes abnormally high levels of calcium in the blood (hypercalcemia) and low to moderate levels of calcium in urine (hypocalciuric). People with FHH usually do not have any symptoms and are often diagnosed by chance during routine bloodwork.

Detailed explanation-3: -As FHH is usually asymptomatic, treatment is not necessary. The hypercalcemia seen in FHH does not respond to diuretics or bisphosphonates. For those with constantly elevated serum calcium concentrations >14mg/dL or in those with NSHPT or relapsing pancreatitis, a total parathyroidectomy can be beneficial.

Detailed explanation-4: -Familial hypocalciuric hypercalcemia (FHH), also known as familial benign hypercalcemia, is a related autosomal dominant condition often mis-diagnosed as HPT that is characterized by lifelong asymptomatic hypercalcemia that results from impaired calcium sensing or downstream signal transduction.

Detailed explanation-5: -Blood in urine, either seen with your eyes or under a microscope. Pain with urination, needing to go urgently or frequently, or bedwetting. Side, belly, or lower belly pain. Kidney stones. Repeated urinary tract infections (UTI) Irritability (seen in infants)