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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Hereditary nephropathy is a chameleon. Its symptoms can be loud and obvious, like red urine in a baby, or they can be silent and subtle, like slightly high blood pressure in a teenager. Because these diseases are present from birth, the body often adapts to the slow decline in kidney function, masking the severity of the problem. Many patients feel perfectly healthy until significant damage has already occurred.
The causes are entirely internal. Unlike kidney disease caused by diabetes or infections, hereditary nephropathy is caused by a coding error in the biological software that builds and runs the kidneys. Understanding the symptoms requires looking beyond just the kidneys to the whole body, as genetic errors often leave clues in the ears, eyes, and skin.
The urine provides the first and most accessible window into what is happening inside the kidneys. In hereditary conditions, the filters (glomeruli) often fail to keep blood and protein inside the body.
Blood in the urine is a classic sign of Alport Syndrome and Thin Basement Membrane Disease. Sometimes the blood is visible, turning the urine pink, red, or cola-colored, especially after a cold or flu. More often, it is microscopic—invisible to the naked eye but easily detected on a dipstick test at the doctor’s office. Persistent microscopic blood in the urine of a child or young adult is a major red flag for a genetic cause.
As the kidney filters become more damaged, they start to leak protein. This manifests as foamy or frothy urine that looks like beer head and requires multiple flushes to clear. Proteinuria is a sign of stress on the kidneys and is a strong predictor of future kidney failure.
In conditions like Polycystic Kidney Disease (PKD), the physical structure of the kidney changes dramatically. The kidneys become enlarged and heavy due to the growth of thousands of fluid-filled cysts.
Patients often experience a dull, aching pain in the back or sides (flank) due to the sheer size of the kidneys stretching the capsule and pressing on other organs. If a cyst bursts or bleeds, the pain can become sudden and sharp. The enlarged kidneys can sometimes be felt by a doctor during a physical exam or even seen as a protruding belly.
The distorted architecture of cystic kidneys creates hiding spots for bacteria, making patients more prone to urinary tract infections (UTIs). Frequent UTIs or kidney stones are common complications that bring patients to the doctor.
The kidneys are the body’s blood pressure thermostat. When they are stressed or damaged, they release hormones that raise blood pressure.
In hereditary nephropathy, high blood pressure often appears at a young age—in children, teens, or young adults. This is unusual, as essential hypertension typically affects older adults. Finding high blood pressure in a young person without obesity or other risk factors should always trigger an investigation for genetic kidney disease.
Because genetic mutations affect every cell, symptoms often appear outside the kidneys. These “extra-renal” manifestations are specific to the type of genetic disease.
The root cause of all these symptoms is a mutation in a specific gene responsible for kidney structure or function.
In Alport syndrome, the mutation is in the COL4A3, COL4A4, or COL4A5 genes. These genes provide instructions for making type IV collagen, a protein that acts like a mesh net in the kidney filters. The mutation makes the resultant mesh weak and prone to tearing, leading to blood and protein leakage and eventually scarring.
In Polycystic Kidney Disease (PKD), mutations in the PKD1 or PKD2 genes affect the cilia—tiny hair-like structures on the surface of kidney cells. These cilia act as sensors. When they are broken, the cells get confused and start dividing uncontrollably and secreting fluid, forming cysts.
In conditions like Fabry disease (caused by GLA gene mutation) or cystinosis, the problem is metabolic. The body is missing an enzyme or transporter needed to break down or move cellular waste. This waste piles up inside the kidney cells, eventually poisoning and destroying them.
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The kidneys control blood volume and blood vessel constriction. When they are damaged, they panic and overproduce hormones that raise pressure to try to force more blood through the filters.
For many, it is a dull, chronic ache. However, acute pain can happen if a cyst bursts, becomes infected, or if a kidney stone passes.
The hearing loss associated with Alport Syndrome is caused by nerve damage and is generally permanent, but hearing aids are very effective.
In some genetic conditions like nephronophthisis, the kidneys lose the ability to concentrate urine. This leads to producing large amounts of dilute urine, especially at night, causing bedwetting (enuresis).
No. You are born with these mutations. They are inherited from your parents or occur spontaneously at conception. Stress does not cause the mutation, but it can worsen the symptoms.
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