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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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Genetic kidney diseases can be tricky to spot because they don’t always look the same. Even within the same family, one person might have severe symptoms while another has a mild case. However, there are common threads that connect these conditions. The symptoms are the result of the specific job the gene was supposed to do but failed. Whether it is building a filter or clearing out waste, the genetic error leads to physical signs that alert doctors to a more profound problem.
The causes are rooted in our DNA. While we often think of “causes” as things we do—like eating sugar or smoking—in genetic nephrology, the cause is written into the code of life before we are even born. Understanding the symptoms helps patients catch the disease early, while understanding the causes alleviates the guilt often associated with chronic illness, as these conditions are not caused by lifestyle choices.
One of the most common signs of genetic kidney disease is a change in the shape or size of the kidneys. In Polycystic Kidney Disease (PKD), the kidneys become enlarged and filled with fluid-filled sacs called cysts.
As these kidneys grow—sometimes reaching the size of a football—they crowd the other organs in the abdomen. Patients often experience a feeling of fullness, back pain, or side pain. The sheer size can cause a protruding belly, even in thin individuals. If a cyst bursts, it can cause sudden, sharp pain and blood in the urine.
In children with congenital anomalies (CAKUT), the kidneys might be too small, misshapen, or in the wrong place. Ultrasound exams before birth or investigations for frequent urinary tract infections in childhood often reveal these structural issues.
The primary job of the kidney is to filter blood. Many genetic diseases attack the microscopic filters called glomeruli. Damage to these filters causes them to leak substances they should be retaining.
Blood in the urine is a hallmark of Alport syndrome and thin basement membrane disease. Sometimes the blood is visible (making urine look pink or tea-colored), but often it is microscopic and only found during a lab test. Persistent blood in the urine without an infection is a major red flag for a genetic cause.
Protein is precious to the body and should stay in the blood. When genetic mutations damage the filter’s barrier (like in focal segmental glomerulosclerosis, or FSGS), protein spills into the urine. This phenomenon causes the urine to look foamy or frothy. Over time, losing protein leads to swelling in the legs and face (edema) and can accelerate kidney failure.
Genetic diseases often affect more than just the kidneys because the faulty gene is present in cells all over the body. These “extra-renal” symptoms are key clues for diagnosis.
In Alport syndrome, the collagen mutation affects the ears and eyes as well as the kidneys. Patients may develop sensorineural hearing loss in childhood or adolescence, requiring hearing aids. They may also have specific eye shape abnormalities.
In Fabry disease, a missing enzyme causes fatty buildup in cells. This leads to symptoms like burning pain in the hands and feet, inability to sweat, and a specific red rash (angiokeratoma). It also thickens the heart muscle, leading to heart rhythm problems. Tuberous Sclerosis Complex can cause benign tumors on the skin, brain, and heart in addition to kidney cysts.
Some genetic kidney diseases affect the tubes (tubules) that balance minerals and acid. These conditions, like Bartter syndrome or Gitelman syndrome, don’t usually cause kidney failure, but they cause severe chemical imbalances.
Patients might suffer from chronic low potassium, leading to muscle weakness, cramps, and fatigue. Others might have trouble balancing acid, leading to growth failure in children (renal tubular acidosis). These patients often crave salt or water excessively because their kidneys cannot hold onto them.
The root cause of all these symptoms is a mutation in a specific gene. A gene is a segment of DNA that codes for a protein.
In diseases like Alport syndrome or PKD, the mutated gene is responsible for a structural protein. It’s like building a house with weak bricks. The structure holds for a while, but eventually, the stress of filtering blood causes the tissue to break down, scar, or form cysts.
In diseases like Fabry or cystinosis, the gene codes for an enzyme or transporter. This kind of situation is like a factory worker going on strike. Waste products build up inside the cell because they can’t be moved or broken down. This accumulation eventually poisons the cell, leading to organ damage.
In conditions involving malformed kidneys (dysplasia), the mutation affects genes that direct the kidney’s growth in the womb. It’s a blueprint error. The kidney never forms correctly from the start, leading to reduced function from birth.
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The kidneys regulate blood pressure. When they are stressed or have cysts, they release hormones that raise blood pressure, often years before kidney function drops.
Simple cysts in PKD are generally benign (not cancer). However, there is a slightly higher risk of kidney cancer in dialysis patients, but the cysts themselves are fluid sacs, not tumors.
Microscopic blood itself isn’t usually dangerous, but it is a sign of filter damage. Visible blood clots can be painful and block urine flow, requiring medical attention.
In some genetic disorders like nephrogenic diabetes insipidus, the kidney cannot concentrate urine. The child pees out mostly water and must drink constantly to avoid dehydration.
No. You are born with the gene mutation. Stress doesn’t cause the disease, but high stress and poor lifestyle can make the symptoms appear earlier or progress faster.
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