• 19May

    Is kidney disease hereditary?

    The diseases of kidneys are divided into hereditary and acquired types. The hereditary diseases are genetically transmitted in the families, whereas the acquired diseases occur during life due to various environmental factors. These patients present with a family history of similar disease. There are many hereditary disorders with varied presentations which depend on the nature of involvement. Inherited renal abnormalities and diseases are less common than acquired disorders. Inherited disorders of the kidney may be structural, functional or part of genetically transmitted systemic diseases that also affect the kidneys.


    There are a variety of kidney diseases, ranging from relatively common to rare disorders and from benign disorders to those with a high morbidity and mortality. Some of the common hereditary disorders are discussed below.

    1. Cystic kidney diseases – these are characterized by formation of fluid filled cavities in the kidneys. When these cavities enlarge, they compress the adjacent normal kidney, resulting in loss of function and structure. Most of these diseases involve both kidneys, though usually one kidney is affected more than the other.

    • Autosomal dominant polycystic kidney disease – this condition involves both kidneys in about 95% of cases. The kidneys are larger than normal and are filled with multiple cysts of various sizes. This occurs because the poorly developing collecting tubules and uriniferous tubules fail to join. Cysts of the liver, spleen and pancreas may be present. These cysts may be detected during prenatal ultrasound examination. At birth, the kidney function is usually normal but as the number of cysts increase with age, it leads to kidney failure during adulthood. Many of these patients develop hypertension.
    There are a variety of kidney diseases, ranging from relatively common to rare disorders

    There are a variety of kidney diseases, ranging from relatively common to rare disorders

    • Autosomal recessive polycystic kidney disease – this disease is encountered in infants and is associated with short life expectancy. It is very uncommon. Multiple small cysts are present throughout both kidneys. They have a poor function which is characterized by a low urine output. These babies also have poorly developed lungs and congenital fibrosis of the liver.
    • Medullary cystic disease – renal medulla is filled with cysts. In these patients the kidneys fail to concentrate the urine resulting in loss of salts. In contrast to other cystic diseases, the kidneys are normal or small sized in this condition. The other associated disorders include gout, liver fibrosis and retinal degeneration.
    • Medullary sponge kidney – the tubules and collecting ducts in the kidneys are dilated. The patients usually present in the 2nd or 3rd decade of life with features of urinary infection, bleeding or stone formation. Some of the cases may be totally asymptomatic. It is a radiographic diagnosis detected during excretory urography. The long term prognosis is good.

    2. Alport’s syndrome - this is a genetic disorder of collagen protein synthesis which affects the basement membrane in the glomeruli, the filtration units in the kidneys. This results in blood in urine. In many families, deafness and abnormalities of the eyes accompany the renal disease.

    Management

    Amniocentesis, ultrasonography and enzymatic assays are the methods used for antenatal diagnosis of many hereditary kidney diseases. This offers a scope for accurate counselling and an early therapeutic intervention as indicated. The management of these patients is done depending on the age at presentation, severity of renal functional loss and its probable outcome. A genetic counselling becomes important based on the genetic analysis of the family members.

    The kidney involvement in hereditary diseases may be isolated or associated with other organ disorders. Its occurrence in the same family raises a suspicion of a hereditary involvement. In such cases, a medical consult should be taken. Genetic counselling has an important role in the prevention of such disorders.

    Anna L.

    It’s all about health!
    I have academic background in drugs related Chemical Technology, as well as extensive professional experience in pharma and medical companies. My main area of interest is everyday life medicine. The goal of my articles is to give people informative answers to the questions that bother them, to dispel doubts and some common misbeliefs and also to inspire everyone to keep healthy lifestyle.

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