Nephrology focuses on diagnosing and treating kidney diseases. The kidneys filter waste, balance fluids, regulate blood pressure, and manage acute and chronic conditions.
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Treating hereditary nephropathy requires a long-term, proactive strategy. Since we cannot yet edit the genes in every cell of the body, the focus is on managing the downstream effects of the genetic error. The goal is to slow the progression of kidney damage, manage symptoms, and prevent complications. Treatment is moving into an exciting era of “precision medicine,” where therapies are tailored to the specific genetic mutation rather than just treating generic kidney failure.
Follow-up is a lifelong partnership between the patient and the nephrology team. Regular monitoring allows doctors to catch subtle changes early—like a small rise in blood pressure or a dip in kidney function—and adjust the plan immediately. This vigilance can add years, or even decades, to the life of the kidneys.
The single most effective way to slow down almost any kidney disease is to control blood pressure. High blood pressure pounds the delicate filters of the kidney, accelerating scarring.
For hereditary conditions, the target blood pressure is often lower than for the general population, typically below 120/80 mmHg. The preferred medications are ACE inhibitors (ending in -pril) or ARBs (ending in -sartan). These drugs do double duty: they lower systemic blood pressure and specifically reduce the pressure inside the kidney’s filters. This reduces protein leakage and protects the kidney tissue from mechanical stress.
For certain genetic diseases, specific drugs now exist that target the underlying mechanism.
For autosomal dominant polycystic kidney disease (ADPKD), a drug called tolvaptan is available. It blocks a hormone (vasopressin) that encourages cyst growth. By blocking this signal, it slows the enlargement of the kidneys and preserves function. It requires drinking a lot of water and regular liver monitoring, but it is the first drug to directly fight cyst growth.
For Fabry disease, Enzyme Replacement Therapy (ERT) provides the missing enzyme through an IV infusion every two weeks. This helps clear the fatty buildup from the cells, stabilizing kidney function and reducing pain. There is also an oral “chaperone” therapy for patients with specific mutations that stabilizes their own enzyme.
Originally diabetes drugs, SGLT2 inhibitors are now standard care for many protein-leaking kidney diseases, including Alport syndrome. They reduce the workload on the kidneys and have shown remarkable ability to slow disease progression.
While diet cannot change genes, it changes the environment the genes work in. A kidney-friendly diet reduces the workload on the organs.
As kidney function declines, the body’s chemistry changes. Treating these side effects keeps the patient feeling well.
For many patients, the disease will eventually progress to kidney failure (end-stage renal disease). This marks the beginning of a new phase of treatment, not its conclusion.
Kidney transplant is the best treatment for kidney failure. For genetic patients, it is often a “cure” for the kidney issue because the new kidney (from a donor without the gene) does not have the disease. It will not develop cysts or Alport syndrome. Living donor transplants are encouraged, but family members must be genetically tested to ensure they are not silent carriers before donating.
If a transplant is not immediate, dialysis takes over the work of the kidneys. Peritoneal dialysis (done at home) or hemodialysis (at a center) can keep patients healthy and active while they wait for a kidney.
As kidney function declines, the body’s chemistry changes. Treating these side effects keeps the patient feeling well.
Patients typically see their nephrologist every 3 to 12 months, depending on the stage of disease.
Visits involve checking blood pressure, urine protein levels, and blood creatinine (to calculate kidney function). For PKD patients, periodic MRI scans may be used to measure total kidney volume. For Alport patients, regular hearing and vision checks are part of the routine. This comprehensive monitoring ensures that every aspect of the syndrome is managed.
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Generally, no. The genetic defect is in your DNA, not the donor’s. The new kidney has healthy DNA and will not develop the hereditary defect.
You should avoid NSAIDs (like ibuprofen and naproxen), as they reduce blood flow to the kidneys and can cause acute injury. Acetaminophen (Tylenol) is generally safe.
For PKD, yes. But for other conditions, or if kidney function is very low, too much water can be dangerous. Always ask your doctor for your specific fluid goal.
Yes! Moderate exercise helps control blood pressure. However, patients with large cysts (PKD) should avoid contact sports (like football) to prevent rupturing a cyst.
Yes, the main side effect is frequent urination and thirst (aquarese) because the drug blocks water reabsorption. It also carries a risk of liver stress, so monthly blood tests are required.
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