Do you have kidney problems? Know types of genetic diseases that affect kidneys

By Team Newsable | First Published Mar 21, 2022, 8:19 PM IST

We spoke to Dr Vishwanath S, HOD & Consultant – Nephrology, Transplant Physician, Manipal Hospital Old Airport Road, who talked about genetic diseases/syndrome that directly or indirectly affect the kidneys.

Several genetic conditions affect the functioning of kidneys. With the advancements in genetics, the responsible genes for causing these conditions have been identified. Therefore, it is necessary to diagnose these conditions, especially in high-risk patients, either during pregnancy or in the early stage of life. It will ensure early management, reduced complications, and improved quality of life.

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TYPES OF GENETIC DISEASES AFFECTING KIDNEYS

Several types of genetic diseases affect kidneys. Some of them are:

Renal agenesis: Renal agenesis is a condition that involves the absence of either one or both kidneys. If one kidney is absent, it is known as unilateral renal agenesis, and if both are absent, the condition is bilateral renal agenesis. This condition is present at birth. The disease is diagnosed during pregnancy through fetal ultrasound as there will be an absence of amniotic fluid (oligohydramnios).
Renal hypoplasia: Renal hypoplasia is a condition in which the kidney of the patient is not fully developed. The kidney of such patients did not function with a total capacity. It is usually diagnosed at the 20th week of pregnancy or at the time of birth. The patients are at high risk of developing kidney stones. The complications include renal failure in children

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Multicystic renal dysplasia: It is a condition that develops due to abnormal development of the kidney during pregnancy. The kidneys of these patients are characterized by several cysts of various sizes that look like a bunch of grapes. The kidney with multiple cysts did not perform any function, and other kidneys grow normally and function to compensate for the other kidney.
Primary vesicoureteral reflux: Urine in the urinary system flows forward from the kidneys to the urethra. Valves are present that ensure the unidirectional urine flow. Primary vesicoureteral reflux is present at birth and characterized by a problem in the valve that causes urine to flow backwards from the urinary bladder to the ureters.
HDR syndrome: It is an autosomal dominant disease. The HDR syndrome is characterized by hypoparathyroidism, hearing loss and renal dysplasia. Patients with this condition may experience tetany, hypocalcaemia, and afebrile convulsions. Loss of hearing may be in both ears with varying severity. The renal disease involves the cystic kidney, nephrotic syndrome, dysplasia, and chronic kidney disease.

Alport’s Disease: It is a genetic disease. The patients with Alport's disease have hearing loss, kidney disease, and eye abnormalities. There is a progressive loss of kidney function. Most patients have blood in the urine that indicates abnormal kidney function. In addition, there may be elevated protein levels in urine, and the disease may progress to cause end-stage renal disease.
Congenital Nephrotic Syndrome: Congenital nephrotic syndrome is an inherited condition. The patients with this condition experience high protein in the urine and body swelling. The disease develops during the first few weeks after birth. The patients are at increased risk of malnutrition, infection, and kidney failure.

Focal Segmental Glomerulosclerosis: Glomerulus is a part of the kidney that assists in filtering the waste from the blood. In this disease, scar tissues are formed on the glomeruli. The patients may have kidney failure that is treated only through dialysis or kidney transplant.
Fanconi Syndrome: Fanconi syndrome is an inherited condition that develops due to the abnormal working of several genes. The alteration in these genes affects the functioning of the kidneys. The patients with this condition cannot effectively absorb the electrolytes resulting in fragile bones, frequent urination, and dehydration.
Proximal Renal Tubular Acidosis: The kidneys, or more specifically proximal tubule, of patients with this condition, cannot reabsorb bicarbonate from the filtrate. The patients experience reduced bone density, ocular abnormality, growth retardation, and intellectual disability. The patients may require life-long supplementation of bicarbonate to normalize their level in blood.
Dent's Disease: It is a rare genetic disease that affects the kidneys. It is a chronic kidney condition that occurs in males. The kidney complications arise due to damage to the proximal tubules. The patients with Dent’s disease have elevated protein levels in urine, kidney stones, high calcium levels in urine, and deposition of calcium in kidneys.

Liddle's Syndrome (Pseudoaldosteronism): It is a rare hereditary condition. In this condition, there is an increased activity of epithelial sodium channels. It results in elevated potassium excretion and retaining the water and sodium. The patients with Liddle’s syndrome experience hypertension, metabolic alkalosis, and fluid retention.
Nephronophthisis: It is an autosomal recessive disease. In this condition, there is a scar (fibrosis) and inflammation in the kidneys that affect kidney function. The patients with this condition experience increased urination frequency, weakness, excessive thirst, and severe fatigue.

EARLY DIAGNOSIS OF GENETIC DISEASE

Genetic testing in kidney diseases condition definitely helps in detecting early and taking appropriate steps to prevent further kidney damage. Further, the kidney disease was reclassified in 1 in 5 patients after genetic testing. Also, genetic testing identified the actual cause of kidney disease in approximately 17% of the patients with no information about pathophysiology through standard diagnostic techniques.

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An example, in this case, is primary hyperoxaluria. It is an autosomal recessive condition. In this condition, the patient has an overproduction of oxalate. As the kidneys excrete excess oxalate, there is a high risk of deposition of calcium oxalate in the kidneys. It may reduce kidney functioning and cause renal failure. The condition is due to the absence of an enzyme secreted by the liver. Doctors may manage the disease effectively if diagnosed early through genetic testing. Diagnosing primary hyperoxaluria in the advanced stage may require kidney and liver transplantation.

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