2015年7月1日星期三

Hereditary Renal Diseases

Some renal disease are inherited from generation to generation. Here are the typical hereditary renal diseases for your information, including Autosomal Dominant Polycystic Kidney Disease, Alport Syndrome, Medullary Cystic Disease, Medullary Sponge Kidney.

Autosomal Dominant Polycystic Kidney Disease (medicine for ADPKD)

Polycystic Kidney Disease is known as numerous kidney cysts on the surface or inside the kidneys. Over time, the enlarged cysts will put force to nearby tissues, leading kidney failure.

Cystic disorders account for approximately 11 percent of end-stage kidney diseases. Autosomal dominant polycystic kidney disease alone accounts for 8-10 percent. The rest (1-3 percent) of the patients who reach dialysis or transplantation is due to medullary cystic disease, renal-retinal displasia or, rarely, medullary sponge kidney.

Alport Syndrome

Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.

People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys.

Besides, Alport syndrome occurs in approximately 1 in 50,000 newborns.

Medullary Cystic Disease

Medullary cystic kidney disease (MCKD) is very similar to the childhood disease familial juvenile nephronophthisis (NPH). Both lead to scarring of the kidney and fluid-filled cavities (cysts) in the deeper parts of the kidney.

Early in the disease, symptoms may include: Excessive urination (polyuria); Salt cravings; Urination at night (nocturia); Weakness etc.

The later symptoms may happen, if this Hereditary Renal Diseases can not be controlled well, such as coma, confusion, fatigue, easy bruising or bleeding, pale skin, nausea etc.

Medullary sponge kidney

Medullary sponge kidney is a congenital disorder characterized by malformation of the terminal collecting ducts in the pericalyceal region of the renal pyramids. This collecting duct dilatation, or ectasia, is associated with the formation of both small (microscopic) and large medullary cysts that are often diffuse but do not involve the cortex.

The complications of this Hereditary Renal Disease include renal stones, Urinary tract infection (UTI), Hematuria, Distal renal tubular acidosis, renal insufficiency (rarely) etc.


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