Detailed Information on Medullary cystic disease

Medullary cystic kidney disease is an autosomal dominant kidney disorder characterized by cysts in both kidneys and tubulointerstitial sclerosis leading to end-stage renal illness. In these conditions, the kidneys don't concentrate the urine enough, leading to excessive urine production and loss of sodium. MCKD occurs in older patients and is inherited in an autosomal dominant pattern. Medullary cystic diseases can be divided into two groups or subtypes. The first group nephronophthisis is characterized by an autosomal recessive inheritance. This means that affected children must inherit two genes for the disease that have a mistake (mutation) in them.

There are at least four types of nephronophthisis. All four types are associated with the production of large amoungs of urine. All four types are connected with the production of big amounts of urine early in life and bedwetting. In type 1, kidney failure develops at about age 13. In type 2, kidney failure usually develops from 1 to three years of age. In type 3, kidney failure develops at about age 19, and in type 4, kidney failure develops in the teenage years. The second group, termed medullary cystic kidney disease, is characterized by autosomal dominant inheritance.

There are at least two types of medullary cystic kidney disease, and kidney failure develops between ages 30 and 70. NPH occurs in young children and is frequently due to autosomal recessive inheritance. NPH occurs during childhood and progresses to renal failure before the age of 20 years. NPH may be associated with non-kidney features, while MCKD is limited to the kidneys. NPH occurs in young children and is usually due to autosomal recessive inheritance. These people may have developed the gene defect as a new mutation (the gene becomes abnormal for no apparent reason).

MCKD occurs in older patients and is transmitted in an autosomal dominant pattern. There is no cure for this disease. At first, treatment focuses on controlling symptoms, reducing complications, and slowing the progression of the disease. When kidney failure occurs, dialysis or kidney transplantation is needed. Surgery to remove a kidney may be needed if chronic abdominal pain occurs. It has excellent results. Kidney infections are common and are treated with antibiotics. Large daily intake of fluids and salt (sodium) is needed to compensate for the excessive excretion of sodium and the production of large volumes of dilute urine.

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