Hematuria Familial Benign

Familial benign hematuria (h. familiaris benigna; synonym - familial hereditary hematuria) is a benign hereditary disease characterized by the periodic appearance of blood in the urine.

The disease is caused by a mutation in the COL4A3 or COL4A4 gene, encoding the chains of type IV collagen, the main protein of the basement membrane of the renal tubules. The mutation leads to disruption of the structure of the basement membrane and increased vascular permeability of the glomeruli of the kidneys to red blood cells.

Clinically manifested by periodic painless macro- or microhematuria that occurs spontaneously or after minor physical activity. Urinalysis during periods of remission usually does not reveal pathology. There are no other symptoms of kidney damage.

Diagnosis is based on identifying familial cases of the disease and excluding other causes of hematuria. Treatment is usually not required. The prognosis is favorable, the disease does not progress and does not lead to chronic renal failure. Patients are advised to avoid intense physical activity and trauma that can cause hematuria.

Benign familial hematuria (HFD), also known as familial hereditary hematuria, is a rare inherited disease that causes blood in the urine. This condition usually runs in families and can affect people at any age. Although the symptoms may be cause for concern, familial benign hematuria is usually not life-threatening.

Although the cause of familial benign hematuria is unknown, it is thought to be related to defects in the capillary walls of the glomeruli. When blood passes through these capillaries, it can leak into the urine, causing hematuria.

Symptoms of familial benign hematuria can range from mild to heavy blood in the urine. Often blood appears after heavy exercise or stressful situations. Many people with familial benign hematuria have no other symptoms or problems with kidney function. However, some patients may have an increased risk of developing kidney stones or urinary tract infections.

The diagnosis of familial benign hematuria can be made after a careful review of the patient's medical history and physical examination results. It is important to rule out other possible causes of blood in the urine, such as urinary tract infections, kidney or bladder tumors, or other inherited kidney diseases.

Treatment of benign familial hematuria is usually not required. However, patients may be advised to regularly monitor their kidney and urinary tract conditions, as well as undergo regular testing to rule out other kidney diseases. In some cases, treatment may be recommended for symptomatic control or prevention of kidney stones.

Overall, familial benign hematuria is a rare but usually harmless hereditary condition that requires regular surveillance and monitoring. If you find blood in your urine or have other symptoms related to your urinary tract or kidneys, see your doctor for diagnosis and treatment.