Podocytopathy

Podocytopathies are the most common cause of nephrotic syndrome and proteinuria.

• Nephrotic syndrome: A kidney disease in which the small blood vessels that filter waste and extra water from the body get damaged. It is characterised by edema (swelling).
• Proteinuria: The presence of protein in the urine.

Usually, a probe to diagnose podocytopathies begins only after a patient gets diagnosed with these conditions.

The primary cause of podocytopathies are injuries to the podocytes. These injuries may be the result of systemic immune disorders.

However, sometimes these injuries may not arise from such disorders. In that case, they could be marked by lesions which can be seen in a biopsy.

These lesions are nonspecific and can be associated with a number of underlying causes including in response to certain treatments and genetic mutations.

The first step in the diagnosis of podocytopathies is gathering patient and family medical history through available resources. The following tests may also be done:

• Gene diagnostics could provide early warning of any genetic or inherited causes of podocytopathies. It can also be key in helping both the doctor and patient save time by protecting against unnecessary or ineffective treatments. It provides a molecular diagnosis and is therefore recommended in all patients under the age of 30. (Read more: What is gene therapy?)
• A kidney biopsy may be recommended early in the diagnostic workup in adults. In younger patients, especially children, a kidney biopsy is done only if the initial treatment fails.
• Urinalysis and renal analysis, along with biochemistry assessment, are also done.

If a genetic cause is ascertained, the management of podocytopathies should be targeted at the identified gene. Podocyte-specific therapies can be used for the management of this condition. These therapies include stem cell therapy for genetic disorders, genetically modified cells, small interfering RNA therapies.

Steroid sparing immunosuppressive agents could also be considered in the case of steroid-dependent patients or in cases where the patient relapses frequently.

Glomerular hyperfiltration should also be controlled and monitored. Management of this condition can be done by treating its manifestations and symptoms. The glomeruli (blood vessels) and the Bowman's capsule (a sac containing the glomeruli, among other cells and tissues, and lined with podocytes) form the main filtration unit of the kidneys.

Gene-targeted treatments are the best shot for this condition. However, advancements need to be made for the same. The rapid increase in knowledge of biotechnology, genetics and medicine has put a spotlight on making genetic testing accessible, even more so in the case of conditions such as podocytopathies.