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Fanconi syndrome

Fanconi syndrome (also known as Fanconi's syndrome) is a disorder in which the proximal tubular function of the kidney is impaired, resulting in improper reabsorption of electrolytes and nutrients back into the bloodstream. Compounds involved include glucose, amino acids, uric acid, and phosphate. It is named after Guido Fanconi, a Swiss pediatrician; this may be a misnomer since Fanconi himself never identified it as a syndrome. more...

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It should not be confused with Fanconi anemia, a separate disease.

Symptoms

Symptoms of Fanconi syndrome include:

  • Polyuria, polydipsia and dehydration
  • Rickets (in children) and osteomalacia (in adults)
  • Growth failure
  • Proteinuria
  • Hypokalemia
  • Hypophosphatemia
  • Acidosis
  • Hidradenitis suppurativa

Causes

There are different diseases underlying Fanconi syndrome. They can be inherited/congenital as well as acquired. Cystinosis is the most common cause of Fanconi syndrome in children; however, it is possible to acquire this disease later on in life. It is still being studied by the National Institutes of Health. Other recognised causes of Fanconi's syndrome are Wilson's disease (a genetically inherited condition of copper metabolism), fructose intolerance and Sjogren's disease (an autoimmune disorder)

Treatment

Treatment of children with Fanconi syndrome mainly consists of replacement of substances lost in the urine (mainly fluid and electrolytes). Dialysis is often required; however, this is complicated by the fact that unlike renal failure, Fanconi Syndrome is not the same thing as the death of the kidneys. This often leads to unnecessary organ transplants when the patient is treated by a nephrologist who is unfamiliar with Fanconi syndrome.

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Uric acid tests
From Gale Encyclopedia of Medicine, 4/6/01 by Janis O. Flores

Definition

Uric acid tests are tests that are done to measure the levels of uric acid in blood serum or in urine.

Purpose

The uric acid tests are used to evaluate the blood levels of uric acid for gout and to assess uric acid levels in the urine for kidney stone formation. The urine test is used most often to monitor patients already diagnosed with kidney stones, but it can also be used to detect disorders that affect the body's production of uric acid and to help measure the level of kidney functioning.

Uric acid is a waste product that results from the breakdown of purine, a nucleic acid. (Nucleic acids are the building blocks of DNA.) Uric acid is made in the liver and excreted by the kidneys. If the liver produces too much uric acid or the kidneys excrete too little, the patient will have too much uric acid in the blood. This condition is called hyperuricemia. Supersaturated uric acid in the urine (uricosuria) can crystallize to form kidney stones that may block the tubes that lead from the kidneys to the bladder (the ureters).

Precautions

Blood test

Patients scheduled for a blood test for uric acid should be checked for the following medications: loop diuretics (Diamox, Bumex, Edecrin, or Lasix); ethambutol (Myambutol); vincristine (Oncovin); pyrazinamide (Tebrazid); thiazide diuretics (Naturetin, Hydrex, Diuril, Esidrix, HydroDiuril, Aquatensen, Renese, Diurese); aspirin (low doses); acetaminophen (Tylenol); ascorbic acid (vitamin C preparations); levodopa (Larodopa); or phenacetin. These drugs can affect test results.

Certain foods that are high in purine may increase the patient's levels of uric acid. These include kidneys, liver, sweetbreads, sardines, anchovies, and meat extracts.

Urine test

Patients should be checked for the following medications before the urine test: diuretics, aspirin, pyrazinamide (Tebrazid), phenylbutazone, probenecid (Benemid), and allopurinol (Lopurin). If the patient needs to continue taking these medications, the laboratory should be notified.

The laboratory should also be notified if the patient has had recent x-ray tests requiring contrast dyes. These chemicals increase uric acid levels in urine and decrease them in blood.

Description

The uric acid blood test is performed on a sample of the patient's blood, withdrawn from a vein into a vacuum tube. The procedure, which is called a venipuncture, takes about five minutes. The urine test requires the patient to collect all urine voided over a 24-hour period, with the exception of the very first specimen. The patient keeps the specimen container on ice or in the refrigerator during the collection period.

Preparation

The uric acid test requires either a blood or urine sample. For the blood sample, the patient should be fasting (nothing to eat or drink) for at least eight hours before the test. The urine test for uric acid requires a 24-hour urine collection. The urine test does not require the patient to fast or cut down on fluids. Some laboratories encourage patients to drink plenty of fluids during the collection period.

Risks

Risks for the blood test are minimal, but may include slight bleeding from the puncture site, a small bruise or swelling in the area, or fainting or feeling lightheaded.

Normal results

Blood test

Reference values for blood uric acid vary from laboratory to laboratory but are generally found within the following range: Male: 2.1-8.5 mg/dL; female: 2.0-6.6 mg/dL. Values may be slightly higher in the elderly.

Urine test

Reference values for 24-hour urinary uric acid vary from laboratory to laboratory but are generally found within the following range: 250-750 mg/24 hours.

Abnormal results

The critical value for the blood test is a level of uric acid higher than 12 milligrams per deciliter (about 3.4 ounces).

Increased production of uric acid may result from eating foods that are high in purine. Increased uric acid levels due to overproduction may also be caused by gout, by a genetic disorder of purine metabolism, or by metastatic cancer, destruction of red blood cells, leukemia, or cancer chemotherapy.

Decreased excretion of uric acid is seen in chronic kidney disease, low thyroid, toxemia of pregnancy, and alcoholism. Patients with gout excrete less than half the uric acid in their blood as other persons. Only 10-15% of the total cases of hyperuricemia, however, are caused by gout.

Abnormally low uric acid levels may indicate that the patient is taking allopurinol or probenecid for treatment of gout; may be pregnant; or suffers from Wilson's disease or Fanconi's syndrome.

Key Terms

Fanconi's syndrome
A rare disorder caused by vitamin D deficiency or exposure to heavy metals.
Gout
A metabolic disorder characterized by sudden recurring attacks of arthritis caused by deposits of crystals that build up in the joints due to abnormally high uric acid blood levels. In gout, uric acid may be overproduced, underexcreted, or both.
Hyperuricemia
Excessively high levels of uric acid in the blood, often producing gout.
Purine
A white crystalline substance that is one of the building blocks of DNA. Uric acid is produced when purine is broken down in the body.
Uric acid
A compound resulting from the body's breakdown of purine. It is normally present in human urine only in small amounts.
Uricosuria
Increased levels of uric acid in the urine.
Wilson's disease
A rare hereditary disease marked by the buildup of copper in the liver and brain, causing loss of kidney function.

Further Reading

For Your Information

    Books

  • Laboratory Test Handbook, edited by David S. Jacobs. Cleveland, OH: Lexi-Comp Inc., 1996.
  • Mosby's Diagnostic and Laboratory Test Reference, edited by Kathleen Deska Pagana and Timothy James Pagana. St. Louis: Mosby-Year Book, Inc., 1998.
  • Springhouse Corporation. Handbook of Diagnostic Tests, edited by Matthew Cahill. Springhouse, PA: Springhouse Corporation, 1995.

Gale Encyclopedia of Medicine. Gale Research, 1999.

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