What Are the Types, and Symptoms and Diagnoses of Renal Dysplasia and Cystic Disease?

Renal Agenesis

  • Being born with only one functional kidney.
  • Sometimes imaging tests will show a very small kidney in an abnormal position.
  • Your health care provider may suggest some other tests on your baby. It's important to find out whether a small amount of kidney tissue was missed by the first study.

Renal Dysplasia

  • Abnormal tissue grows in a small part of one kidney (unilateral) or in both kidneys (bilateral).
  • It can be seen in a set pattern, or randomly within either one or both kidneys.

Renal Hypoplasia

  • Part or the whole kidney does not fully develop in the womb. It is smaller than normal.
  • Small size means that the kidney does not function as well as a normal kidney.
  • One or both kidneys may be affected (it is more serious if found in both kidneys).
  • It does not seem to be passed down from parents to children.
  • It occurs equally in boys and girls.
  • Kidney size is linked to the chance of problems in the future. If a child's kidneys are very small, kidney function may decrease as the child enters teenage years.
  • Kidney failure may occur, which would call for supportive measures.
  • Renal Hypoplasia may also be linked to abnormalities of the ureter (the tube that joins the kidney to the bladder). This could cause urine to flow back from the bladder into the kidney. The ureter can also be blocked where it normally enters the kidney.

Autosomal Recessive Polycystic Kidney Disease (ARPK)

  • In this condition kidneys appear larger than normal on sonography, Cysts are innumerable and tiny that they can't be seen on sonography.
  • ARPK is also called "infantile polycystic kidney disease." It is often found in a fetus with a sonogram during pregnancy.
  • At birth there are signs such as lumps in the infant's belly on both sides, and/or kidney failure.
  • It may also show up first during the teen years or in young adulthood.
  • There is a wide range of severity with this condition. It can appear at an early age and progress to different degrees of kidney failure.
  • This condition can be linked to overgrowth of connective tissue in the liver.

Autosomal Dominant Polycystic Kidney Disease (ADPK)

  • ADPK is one of the most common causes of kidney failure. Both kidneys have varying size cysts, which may also show up in the liver.
  • It used to be called "adult polycystic kidney disease" because most cases are diagnosed from age 30 to 50 (but the disease can appear in all age groups).
  • It is passed down from parents to children (50% of children born to parents with this disease will also have it).
  • Signs in babies are kidney failure and breathing problems.
  • Signs in children older than 1 year are high blood pressure or enlarged kidneys.
  • Signs in adults are visible or microscopic blood in the urine, flank (side) pain, high blood pressure, UTI, and occasional gastrointestinal issues.
  • Some people may also have an abnormality of the blood vessels in the brain, which can lead to sudden bleeding and the risk of an aneurysm.
  • While ADPK can affect your quality of life and make you feel weak, the good news is that the risk of a kidney tumor is no greater with this disease than for the general public.

Juvenile Nephronophthisis and Medullary Cystic Disease Complex

  • This is a rare condition, with signs such as:
    • Varying size cysts, mostly less than 1 cm
    • Great thirst
    • Urinating often
    • Eye problems
    • Skeletal abnormalities
    • Liver fibrosis
  • Less than half of those diagnosed as children have renal cysts.
  • Kidney failure often occurs in the early teens (juvenile nephronophthisis) to age 20 to 40 (medullary cystic disease).

Renal Cystic Disease Syndromes

Renal cystic disease is common in people with a variety of other serious maladies. Below are six different types of cystic disease.

Tuberous Sclerosis

  • This is a genetic disorder causes a variety of tumors to form in many different organs.
  • Signs are epilepsy, developmental delay and fleshy masses under the skin.
  • Benign, mostly fatty tumors of the kidneys (angiomyolipoma) are often found.
  • Renal cysts grow in 20% of people with this disease, most often in childhood.
  • The risk of kidney tumors is greater in patients with tuberous sclerosis (a genetic disease) than in the normal population.

Von Hippel-Lindau Disease

  • This is an inherited disease known to cause fluid-filled sacs (cysts) and tumors to form in different parts of the body.
  • It occurs in 50% of children with an affected parent.
  • Signs are:
    • Blood vessel abnormalities of the brain and eye
    • Cysts of the pancreas, kidney and epididymis
    • Benign fatty tumors at many places between the cysts
    • Tumors of the adrenal gland (pheochromocytoma)
  • Renal cysts occur in about 80% of patients with Von Hippel-Lindau disease.
  • Kidney cancer is present in about 40% of those with Von Hippel-Lindau disease.
  • Cysts and tumors often do not cause symptoms unless they become very large, causing pain or bleeding due to bursting.

Multicystic Dysplastic Kidney (MCDK)

  • MCDK is the most common type of pediatric renal cystic disease. It can be felt as a lump in a baby's belly.
  • Often found during a fetal sonogram, the kidney looks like a bunch of grapes with very little kidney tissue between rather than an organ with a normal shape. The kidney function is often absent.
  • In 10% of cases there may be a block at the ureteropelvic junction in the opposite organ.
  • In 20% of cases there can also be abnormal urine backflow from the bladder into the ureter.
  • High blood pressure and renal tumors may be linked to this problem in children, but these cases are rare.

Simple Renal Cyst

Simple Renal Cyst
Simple Renal Cyst
National Institute of Diabetes and Digestive and Kidney Diseases,
National Institutes of Health

  • They do not often cause problems and are usually found during tests for other health issues.
  • Signs are stomach pain, blood in the urine and (in rare cases) high blood pressure.
  • These cysts occur at the same rate in both genders.
  • Simple renal cysts are not linked to kidney cancer but the risk of cancer increase if the cyst is complex (with many chambers or irregularities in the wall) and/or contains calcium.

Medullary Sponge Kidney

  • Medullary Spongy Kidney is when multiple, small cysts develop in the tubules that collect urine.
  • Signs are kidney pain, blood in the urine and high calcium levels in the urine.
  • Patients commonly present with recurrent kidney stones.

Acquired Renal Cystic Disease

  • This occurs in people with long-standing renal failure, particularly those on dialysis.
  • Mostly asymptomatic, but may present with back pain or blood in the urine.
  • It is associated with a greater risk of kidney cancer.