Polycystic Kidney Disease Type 1 (PKD1) is a genetic disorder which is characterized by the growth of numerous cysts in the kidneys. These cysts are filled with fluid, growing out of nephrons, the tiny filtering units inside the kidneys. The cysts eventually separate from the nephrons and continue to enlarge. The kidneys enlarge along with the cysts (which can number in the thousands), while retaining roughly their kidney shape. In fully developed PKD, a cyst-filled kidney can weigh as much as 22 pounds. PKD cysts can slowly replace much of the mass of the kidneys, reducing kidney function and leading to kidney failure. When PKD causes kidneys to fail, the patient requires dialysis or kidney transplantation. About one-half of people with the major type of PKD progress to kidney failure. (PKD can also cause cysts in the liver and problems in other organs, such as the heart and blood vessels in the brain.)

Some of the most common symptoms associated with PKD1 are: pain in the back and the sides (between the ribs and hips),

and headaches; in addition, people with PKD1 nay also experience: urinary tract infections, hematuria (blood in the urine), liver and pancreatic cysts, abnormal heart valves, high blood pressure, kidney stones, aneurysms (bulges in the walls of blood vessels) in the brain, or diverticulosis (small sacs on the colon).

Treatment for Crohn's disease is dependent on the location and severity of disease, complications, and response to previous treatment. The goals of treatment are to control inflammation, correct nutritional deficiencies, and relieve symptoms like abdominal pain, diarrhea, and rectal bleeding. Treatment may include drugs, nutrition supplements, surgery, or a combination of these options. At this time, treatment can help control the disease, but there is no cure.

Crohn’s Disease is a disorder of the gastro-intestinal (GI) tract. It can affect any portion of the GI tract -- from the lips to the anus. Crohn's disease usually occurs in the lower part of the small intestine, called the ileum,the region where the small intestine changes into the large intestine. It is classified as a disorder of inflammation. The body acts as though there were an infection or injury of the GI tract. The affected areas become red, swollen, and painful. They can bleed. Affected areas no longer perform their normal functions, so diarrhea sometimes results.

Also, patients of FMF may experience a serious complication known as amyloidosis, which is characterized by abnormal accumulation of a fatty-like substance (amyloid) in various parts of the body; proteins are mistakenly synthesized and deposited in organs and tissues in the body. About 25% of the people afflicted by FMF develop amyloidosis. If amyloid accumulates in the kidneys (known as renal amyloidosis), kidney function may be impaired to the point where life-threatening complications may occur.

The only treatment for FMF is a drug called colchicine, which patients have to take every day for life and which causes side effects such as diarrhea and abdominal cramps. The drug can also cause chromosomal damage and infertility.

Familial Mediterranean Fever (FMF) seems to mainly affect people of Mediterranean origin such as Sephardic Jews, Arabs, Armenians, and Turks, therefore FMF is thought to an inherited autosomal recessiv

Some topics in this essay:
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