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Fanconi's anemia

Fanconi anemia (FA) is a rare genetic disease that affects children and adults from all ethnic backgrounds. Named for the Swiss pediatrician who originally described this disorder, Guido Fanconi, FA is characterized by short stature, skeletal anomalies, increased incidence of solid tumors and leukemias, bone marrow failure (aplastic anemia), and cellular sensitivity to DNA damaging agents such as mitomycin C. more...

Fabry's disease
Factor V Leiden mutation
Factor VIII deficiency
Fallot tetralogy
Familial adenomatous...
Familial Mediterranean fever
Familial periodic paralysis
Familial polyposis
Fanconi syndrome
Fanconi's anemia
Farber's disease
Fatal familial insomnia
Fatty liver
Febrile seizure
Fibrodysplasia ossificans...
Fibrous dysplasia
Fissured tongue
Fitz-Hugh-Curtis syndrome
Flesh eating bacteria
Focal dystonia
Foix-Alajouanine syndrome
Follicular lymphoma
Fountain syndrome
Fragile X syndrome
Fraser syndrome
FRAXA syndrome
Friedreich's ataxia
Frontotemporal dementia
Fructose intolerance


FA is primarily a autosomal recessive genetic condition. There are at least 8 genes for which mutations in are known to cause FA: A, C, D1, D2, F, G, L, and B. FANCB is the one exception to FA being autosomal recessive, as this gene is on the X chromosome. For an autosomal recessive disorder, both parents must be carriers in order for a child to inherit the condition. If both parents are carriers, there is a 25% risk with each pregnancy for the mother to have an affected child. Approximately 1,000 persons worldwide presently suffer from the disease. The carrier frequency in the Ashkenazi Jewish population is about 1/90. Genetic counseling and genetic testing is recommended for families that may be carriers of Fanconi anemia.

Because of the failure of the components of the blood - white and red blood cells and platelets - the body cannot successfully combat infection, fatigue or spontaneous hemorrhage or bleeding. Bone marrow transplantation is the accepted treatment to repair the hematological problems associated with FA. Patients face an increased risk of acquiring cancer and other serious health problems throughout their lifetime.


Many patients eventually develop acute myelogenous leukemia (AML). Older patients are extremely likely to develop head and neck, esophageal, gastrointestinal, vulvar and anal cancers. Patients who have had a successful bone marrow transplant and, thus, are cured of the blood problem associated with FA still must have regular examinations to watch for signs of cancer. Many patients do not reach adulthood.

The overarching medical challenge that Fanconi patients face is a failure of their bone marrow to produce blood cells. In addition, Fanconi patients normally are born with a variety of birth defects. For instance, 90% of the Jewish children born with Fanconi's have no thumbs. A good number of Fanconi patients have kidney problems, trouble with their eyes, developmental retardation and other serious defects.


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Renal tubular acidosis
From Gale Encyclopedia of Medicine, 4/6/01 by J. Ricker Polsdorfer


Renal tubular acidosis (RTA) is a condition characterized by too much acid in the body due to a defect in kidney function.


Chemical balance is critical to the body's functioning. Therefore, the body controls its chemicals very strictly. The acid-base balance must be between a pH of 7.35 and 7.45 or trouble will start. Every other chemical in the body is affected by the acid-base balance. The most important chemicals in this system are sodium, chloride, potassium, calcium, ammonium, carbon dioxide, oxygen, and phosphates.

The lungs rapidly adjust acid-base balance by the speed of breathing, because carbon dioxide dissolved in water is an acid--carbonic acid. Faster breathing eliminates more carbon dioxide, decreases the carbonic acid in the blood and increases the pH. Holding your breath does the opposite. Blood acidity from carbon dioxide controls the rate of breathing, not oxygen.

The kidneys also regulate acid-base balance somewhat more slowly than the lungs. They handle all the chemicals, often trading one for another that is more or less acidic. The trading takes place between the blood and the urine, so that extra chemicals end up passing out of the body. If the kidneys do not effectively eliminate acid, it builds up in the blood, leading to a condition called metabolic acidosis. These conditions are called renal tubular acidosis.

Causes & symptoms

There are three types of renal tubular acidosis. They include:

  • Distal renal tubular acidosis (type 1) may be a hereditary condition or may be triggered by an autoimmune disease, lithium therapy, kidney transplantation, or chronic obstruction.
  • Proximal renal tubular acidosis (type 2) is caused by hereditary diseases, such as Fanconi's syndrome, fructose intolerance, and Lowe's syndrome. It can also develop with vitamin D deficiency, kidney transplantation, heavy metal poisoning, and treatment with certain drugs.
  • Type 4 renal tubular acidosis is not hereditary, but is associated with diabetes mellitus, sickle cell anemia, an autoimmune disease, or an obstructed urinary tract.

Symptoms vary with the underlying mechanism of the defect and the readjustment of chemicals required to compensate for the defect.

  • Distal RTA results in high blood acidity and low blood potassium levels. Symptoms include mild dehydration; muscle weakness or paralysis (due to potassium deficiency); kidney stones (due to excess calcium in the urine); and bone fragility and pain.
  • Proximal RTA also results in high blood acidity and low blood potassium levels. Symptoms include mild dehydration.
  • Type 4 RTA is characterized by high blood acidity and high blood potassium levels; it rarely causes symptoms unless potassium levels rise so high as to cause heart arrhythmias or muscle paralysis.


RTA is suspected when a person has certain symptoms indicative of the disease or when routine tests show high blood acid levels and low blood potassium levels. From there, more testing of blood and urine chemicals will help determine the type of RTA present.


The foundation of treatment for RTA types 1 and 2 is replacement of alkali (base) by drinking a bicarbonate solution daily. Potassium may also have to be replaced, and other chemicals added to maintain balance. In type 4 RTA acidity will normalize if potassium is reduced. This is done by changing the diet and by using diuretic medicines that promote potassium excretion in the urine.


Careful balancing of body chemicals will usually produce good results. If there is an underlying disease responsible for the kidney malfunction, it may be the determining factor in the prognosis.


Relatives of patients with the possibly hereditary forms of renal tubular acidosis should be tested.

Key Terms

Autoimmune disease
Type of diseases characterized by antibodies that attack the body's own tissues.
Fanconi's syndrome
A disorder of the kidneys characterized by glucose in the urine.
Lowe's syndrome
A rare inherited disorder that is distinguished by congenital cataracts, glaucoma, and severe mental retardation.
A deficiency disease that effects the bone development of growing bodies, usually causing soft bones.

Further Reading

For Your Information


  • Chesney, Russell W. "Specific Renal Tubular Disorders." In Cecil Textbook of Medicine. Edited by J. Claude Bennett and Fred Plum. Philadelphia: W. B. Saunders, 1996.

Gale Encyclopedia of Medicine. Gale Research, 1999.

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