Inherited Kidney Diseases: Types, Symptoms, and Management

What are Inherited Kidney Diseases? 

Inherited kidney diseases, also known as genetic kidney diseases or hereditary kidney diseases, are a group of medical conditions that affect the structure and function of the kidneys, and are caused by genetic mutations or variations passed down from one generation to the next within a family. Affecting people of all ages, inherited and congenital kidney diseases often have poor prognosis and can cause a wide range of kidney-related problems, such as impaired filtration, fluid and electrolyte imbalances, and if left untreated, can lead to end-stage renal disease.

Congenital vs Inherited Kidney Diseases

While ‘congenital kidney diseases’ and ‘inherited kidney diseases’ are related concepts, they refer to slightly different aspects of kidney conditions.

Congenital kidney diseases are conditions that are present at birth. These conditions may arise due to developmental problems or structural abnormalities in the kidneys that occur during foetal development, affecting the shape, size, or function of the kidneys. Please note that congenital kidney diseases are not always hereditary and can occur due to random genetic mutations or other factors during foetal development, and can affect individuals with no family history of kidney problems.

Inherited kidney diseases, as discussed earlier, are kidney conditions that result from genetic mutations or variations that are passed down from one generation to the next. These mutations affect specific genes responsible for kidney structure and function. Inherited kidney diseases can affect people at any age, depending on the specific disease and its inheritance pattern. 

Types of Inherited Kidney Diseases 

Inherited kidney diseases comprise diverse conditions, each with unique characteristics and impact on kidney function. These conditions include:

Polycystic Kidney Disease (PKD): PKD is one of the most common inherited kidney diseases. There are two main types of PKD: Autosomal Dominant PKD (ADPKD) and autosomal recessive PKD (ARPKD).

ADPKD is usually diagnosed in adulthood and is characterised by the development of numerous fluid-filled cysts in the kidneys, which can lead to kidney enlargement and decreased kidney function. ARPKD is typically diagnosed in childhood and is associated with cysts in the kidneys and other complications..

Alport Syndrome: Alport Syndrome is a genetic disorder that primarily affects the glomerular basement membrane in the kidneys. It can result in kidney dysfunction, often progressing to chronic kidney disease. Additionally, individuals with Alport Syndrome may experience hearing loss and eye abnormalities.

Fabry Disease: Fabry Disease is a rare genetic disorder that leads to the accumulation of a fatty substance called ‘globotriaosylceramide’ in kidney cells. This build-up can harm the kidneys and other organs.

Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD): ADTKD comprises a group of rare genetic disorders that primarily impact the tubules and interstitial tissues within the kidneys. These conditions typically result in impaired kidney function.

Nephronophthisis: Typically diagnosed in children and adolescents, nephronophthisis is characterised by chronic inflammation and fibrosis in the kidneys, eventually leading to kidney failure.

Medullary Cystic Kidney Disease (MCKD): MCKD is a rare genetic condition that leads to the formation of cysts within the medulla (inner part) of the kidney. These cysts can impair kidney function over time.

Bartter Syndrome: This is a group of genetic disorders that interfere with the reabsorption of sodium and potassium in the kidney's tubules. As a result, individuals affected by Bartter syndrome may encounter electrolyte imbalances, including decreased potassium levels, which can be exemplified in symptoms such as muscle weakness and even amyloidosis.

Inherited Kidney Disease Symptoms

Inherited kidney diseases can have a wide range of symptoms, and the specific symptoms can vary depending on the type and severity of the condition. However, some common symptoms and signs associated with inherited kidney diseases include:

Hypertension (High Blood Pressure): High blood pressure is a common symptom of many inherited kidney diseases. Managing blood pressure can be challenging but is essential in preventing further kidney damage.

Proteinuria: Proteinuria is the presence of excess protein in the urine. It is a common sign of kidney damage and is often seen in inherited kidney diseases.

Hematuria (Blood in Urine): Hematuria refers to the presence of blood in the urine. It can embody pink, red, or brown urine, another common sign of kidney disease.

Swelling (Edema): Edema, or swelling, can occur in the legs, ankles, feet, and sometimes the face due to the inability of the kidneys to remove excess fluid and salt from the body.

Fatigue: Chronic kidney disease can lead to anaemia, which can cause fatigue and weakness.

Frequent Urination: Some individuals with inherited kidney diseases may experience increased urination, particularly at night (nocturia).

Pain or Discomfort: Some kidney diseases, such as polycystic kidney disease (PKD), can cause pain or discomfort in the abdomen or back due to the growth of cysts in the kidneys.

Kidney Stones: In some cases, inherited kidney diseases can lead to the formation of kidney stones, which can cause severe pain when they pass through the urinary tract

If any of the aforementioned symptoms persist, it is advisable to consult an experienced nephrologist or kidney specialist, at a specialised kidney hospital in Delhi, such as Max Hospitals. 

Detecting the Inheritance of Kidney Diseases

Detecting the inheritance of kidney diseases involves a combination of medical and genetic assessments, as these conditions can have a hereditary component. Here are the key steps and methods used to detect the inheritance of kidney diseases:

Family Medical History: Collect and analyse the family medical history. Document any instances of kidney diseases, especially those that have affected multiple generations or close relatives. Identifying a pattern of kidney disease within the family can be a crucial initial clue.

Medical Evaluation: A medical evaluation is essential if there is a suspicion of kidney disease based on the family history or the presence of symptoms. This typically involves:

Physical Examination: A healthcare provider will perform a physical examination to check for signs and symptoms of kidney disease, such as high blood pressure, swelling, or abdominal pain.

Blood and Urine Tests: Blood tests can assess kidney function by measuring serum creatinine and estimating the glomerular filtration rate (eGFR). Urine tests can detect the presence of protein (proteinuria) and blood (hematuria) in the urine.

Imaging Studies: Imaging techniques like ultrasound, CT scans, or MRI may be used to visualise the kidneys and detect abnormalities, such as cysts or tumours.

Genetic Testing: In cases where there is a strong suspicion of an inherited kidney disease or when a specific genetic disorder is suspected, genetic testing may be recommended. This involves analysing an individual's DNA to identify mutations or gene alterations associated with kidney diseases. Examples of genetic tests for kidney diseases include:

Polymerase Chain Reaction (PCR): PCR can amplify and analyse specific DNA segments associated with known kidney disease genes.

Next-Generation Sequencing (NGS): NGS allows for simultaneously sequencing multiple genes, making it useful for identifying mutations in genes associated with various inherited kidney diseases.

Linkage Analysis: In some cases, linkage analysis may be employed to identify genetic markers associated with the inheritance of kidney diseases within families.

Consultation with a Genetic Counsellor: A genetic counsellor can help interpret the results of genetic testing and provide guidance on the inheritance pattern and risks associated with a specific kidney disease. They can also offer information on family planning and potential genetic implications for other family members.

Is Kidney Disease Always Hereditary?

No, kidney disease is not always hereditary. While some kidney diseases are inherited, most are acquired over time due to factors such as high blood pressure, diabetes, infections, medication toxicity, or lifestyle choices. Acquired kidney diseases are in fact more common than hereditary ones, and can affect people with no family history of kidney disease.

How can the Disease be Managed?

Early intervention with proper medical care can help manage the symptoms of inherited kidney diseases better. Most patients suffer from kidney failure by the age of 60 and often are recommended for kidney transplantation. Working closely with a nephrologist will also help you to cope well with health complications associated with these diseases and avoid these at an early stage.