What Is Hereditary Interstitial Kidney Disease?
Hereditary interstitial kidney disease is a kidney disorder caused by the inflammation of spaces between the kidney tubules. This hampers kidney function and leads to end-stage renal disease. It is a type of autosomal dominant hereditary disease characterized by chronic kidney disease with bland urinary sediment and low-grade or no proteinuria. There are three subtypes of the disease-
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Mutation in the Gene UMOD - Patients with mutations in the gene encoding uromodulin suffer from gout in addition to chronic kidney failure. Genetic screening is required for the diagnosis.
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Mutations in REN Gene - Patients with mutations in the gene encoding renin suffer from anemia in childhood, mild hyperkalemia, hyperuricemia, and progressive kidney disease.
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Idiopathic - The third form of hereditary interstitial kidney disease for which the cause has not been found.
What Causes Hereditary Interstitial Kidney Disease?
The hereditary interstitial kidney disease can be acute or chronic depending upon the cause and can get worse over time. The various causes include-
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Side-effects of certain drugs
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Allergic reaction to a drug.
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Autoimmune disorders include anti-tubular basement membrane disease or Kawasaki disease.
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Side-effects of antibiotics like Ampicillin, Penicillin, and Sulphonamide.
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Hypokalemia.
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Hypercalcemia.
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Hyperuricemia.
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Infections.
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Long-term use of drugs like Aspirin, Acetaminophen, and non-steroidal anti-inflammatory drugs (NSAIDs).
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Side effects of other medicines such as Omeprazole, Triamterene, Furosemide, Thiazide diuretics, and Allopurinol.
What Is Acute and Chronic Hereditary Interstitial Kidney Disease?
- Acute Hereditary Interstitial Kidney Disease - This form of the disease occurs quickly and spreads rapidly. It can be caused by bacteria and infection and the symptoms can be pain while urinating, back pain, and fever.
- Chronic Hereditary Interstitial Kidney Disease - This form of the disease appears gradually and develops symptoms like fatigue, nausea, vomiting, itchiness, and breathing issues. The symptoms can present like kidney failure.
What Are the Types of Hereditary Interstitial Kidney Disease?
Inherited tubulointerstitial kidney diseases are separated into autosomal-recessive and autosomal-dominant conditions. Autosomal-recessive conditions are known as nephronophthisis and are the outcome of mutations in several proteins found in the renal tubular cilia. A number of patterns of nephronophthisis are described. Affected people generally suffer from anemia, salt wasting, and progressive kidney disease in childhood, ending in dialysis in the teenage years. The specific patient with this disorder presents in childhood and can have siblings with the disease, but the parents are unaffected. This is generally manageable to distinguish from autosomal dominant interstitial kidney diseases, in which many family members usually are affected, and one of the parents is almost always affected.
There are several types of hereditary interstitial kidney disease, each with different genetic causes and clinical features. They are as follows-
- Alport Syndrome: It is a genetic disorder that affects the collagen proteins in the kidneys, leading to progressive kidney damage and eventual kidney failure. The disease can also affect the ears and eyes.
- Fabry Disease: It is a genetic disorder caused by the deficiency of an enzyme called alpha-galactosidase A. The disease leads to the buildup of a type of fat called globotriaosylceramide in the kidneys and other organs, leading to progressive damage.
- Autosomal Dominant Tubulointerstitial Kidney Disease: This type of HIKD is caused by genetic mutations that affect the tubules and interstitial tissue of the kidneys. The disease leads to progressive kidney damage and eventually kidney failure.
- Autosomal Recessive Polycystic Kidney Disease: Autosomal recessive polycystic kidney disease is a genetic disorder that causes the formation of cysts in the kidneys, leading to progressive kidney damage and eventual kidney failure.
- Nephronophthisis: Nephronophthisis is a genetic disorder that affects the tubules and interstitial tissue of the kidneys, leading to progressive kidney damage and eventually kidney failure.
What Are the Symptoms of Hereditary Interstitial Kidney Disease?
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Nausea.
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Vomiting.
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Fever.
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Rashes.
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Rise in BP.
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Mood swings.
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Drowsiness.
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Weight gain.
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Swelling or information throughout the body.
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Reduced amount of urine.
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Hematuria (blood in urine).
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Coma.
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Hyperuricemia (increased amount of urea in the blood that occurs in the early stages of the disease).
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Gout.
How Is Hereditary Interstitial Kidney Disease Diagnosed?
- Genetic Screening - Genetic screening is beneficial in finding out if other family members have the same disease. The mutations in the UMOD gene can confirm the presence of disease.
- Blood Analysis - The presence of the excess amount of urea (hyperuricemia), calcium in the blood (hypercalcemia), and reduced levels of potassium in the blood (hypokalaemia) can be confirmed by blood analysis. A complete blood count can be done to measure the average red blood cell size, hemoglobin, and hematocrit volume.
- Kidney Ultrasound - Kidney ultrasound reveals normal to the smaller size of kidneys or contracted kidneys in the later stage. In addition, the presence of a medullary cyst can be seen.
- Urine Analysis - To check for the presence of factors that confirms chronic progressive kidney failure. Urine analysis can reveal bland urinary sediment and less than 1 g of urinary protein.
- Kidney Biopsy - Kidney biopsy is a diagnostic procedure in which a small piece of tissue from an organ is exercised and studied under a microscope. The two most common types of kidney biopsy are percutaneous and open kidney biopsy. The results from the biopsy reports can help in deciding the treatment modality.
How Is Hereditary Interstitial Kidney Disease Treated?
- Allopurinol - The use of allopurinol is found to slow the progression of kidney disease and is used extensively. It is generally indicated in young men or other patients who develop gout because the uric acid buildup increases over time, and Allopurinol prevents the development of crippling gout.
- ACE Inhibitors - Angiotensin-converting enzyme innovators, can decrease the production of uromodulin; hence, abnormal uromodulin leads to apoptosis (cell death). Losartan can be preferably used because of its hypouricemic effect.
- Dialysis - It is necessary to filter the blood artificially in order to remove all the waste in the blood. Therefore, dialysis is used as a supportive measure to carry out life. It is usually required in acute cases where the disease progression has led to its peak.
- Kidney Transplantation - In case of extensive kidney damage where dialysis cannot reverse the condition, kidney transplantation can give a better prognosis. However, hereditary interstitial kidney disease is a genetic disease and it can affect the transplanted kidney. Therefore, a comprehensive evaluation is necessary to determine the overall health status, the extent of kidney damage, and the presence of any other health conditions in the patient that may affect the success of the transplant.
Conclusion
Hereditary interstitial kidney disease is the inflammation between the space of kidney filters. The condition is autosomal dominant and requires genetic screening for diagnostics. The symptoms include fever, rash, drowsiness, rise in blood pressure, and gout. Diagnosis is based on a blood profile that reveals hyperuricemia, Hypercalcaemia, and hypokalaemia. On the kidney, ultrasound contracted or smaller size kidneys can be seen. Treatment with allopurinol, ACE inhibitors, and dialysis or kidney transplant can be required based on the stage of the disease.
