Newsgroup: it.salute
Titolo: GLI AMISH SONO MAGGIORMENTE COLPITI DA DIFETTI GENETICI

maple syrup urine disease
 
http://tinyurl.com/jk36b2w
 
 
Maple syrup urine disease is an inherited disorder in which the body is 
unable to process certain protein building blocks (amino acids) 
properly. The condition gets its name from the distinctive sweet odor 
of affected infants' urine and is also characterized by poor feeding, 
vomiting, lack of energy (lethargy), and developmental delay. If 
untreated, maple syrup urine disease can lead to seizures, coma, and 
death.
 
Maple syrup urine disease is often classified by its pattern of signs 
and symptoms. The most common and severe form of the disease is the 
classic type, which becomes apparent soon after birth. Variant forms of 
the disorder become apparent later in infancy or childhood and are 
typically milder, but they still involve developmental delay and other 
health problems if not treated.
 
-- 
Tra il rosso ed il nero,
vince sempre lo zero.


 
 
Crigler-Najjar Syndrome
 
 
http://tinyurl.com/h7rrvq4
 
 
 
Crigler-Najjar syndrome is a rare inherited disease in which a 
substance processed by the liver, called bilirubin, cannot be changed 
into its water-soluble form (conjugated bilirubin). The unconjugated 
bilirubin collects in the child’s liver and spleen, enters circulation, 
and then builds up in other tissues such as the eyes and skin. This 
buildup causes jaundice and eventually nerve and brain damage.
 
There are two types of Crigler-Najjar syndrome. Patients with type I 
have a deficiency of the liver enzyme called glucuronyl transferase, 
and patients with type II have a limitation of this enzyme. Type II can 
be managed by phototherapy and the drug phenobarbital (which helps the 
body produce more glucuronyl transferase), and does not require liver 
transplantation. Type I, on the other hand, is more serious and 
potentially life-threatening.
Crigler-Najjar Syndrome Symptoms
 
In a baseline case of Crigler-Najjar syndrome, the child is jaundiced 
and the following symptoms may occur:
 
    fatigue
    abdominal pain related to biliary stones
 
Symptoms of the acute stage of the illness are caused by an increase in 
unconjugated bilirubin and considered medical emergencies:
 
    diarrhea
    vomiting
    fever
    confusion
    slurred speech
    difficulty swallowing
    change in gait, staggering, frequent falling
    seizures
 
Crigler-Najjar Syndrome Diagnosis
 
Crigler-Najjar is common among the relatively small population of the 
Amish and Mennonite communities. Although Crigler-Najjar is an 
extremely rare disorder, with only about 100 known cases worldwide, 20 
percent of these cases are seen in the Pennsylvania Amish.
 
The baseline disease will show jaundice with no enlarged liver or 
spleen on abdominal exam. The acute stage of the disease may show an 
increased heart rate, poor circulation of fluids through the organs 
(perfusion), improper alignment of the eyes, weak gag reflex, and 
muscle spasms.
 
Labwork will show elevated unconjugated bilirubin levels, normal levels 
of transaminases, low levels of albumin, and the absence of glucuronyl 
transferase with genetic testing. Imaging studies such as a MRI and EEG 
may be called for, but an MRI may be normal even after severe injury, 
unless fatal bilirubin intoxication has occurred. An EEG may help 
confirm intoxication and recovery.
Crigler-Najjar Syndrome Treatment
 
Crigler-Najjar syndrome is primarily managed by phototherapy, in which 
the child is exposed to blue LED light in an apparatus similar to a 
tanning bed. The light breaks down the unconjugated bilirubin into 
compounds that are not toxic to tissues. However, phototherapy is a 
tedious process, requiring 10-12 hours of therapy per day. The 
prolonged exposure to light causes the child’s skin to thicken, 
increasing the need for a more intense phototherapy regimen. The need 
for phototherapy significantly impedes their quality of life.
 
Daily medications include Actigall®, phenobarbital, vitamin E, vitamin 
C, coenzyme Q, L-carnitine, and creatine. When unconjugated bilirubin 
reaches toxic levels, the disease is managed by aggressive intravenous 
fluid hydration, management of elevated glucose, administration of 
albumin, and possibly plasma exchange with the hope of avoiding 
catastrophic, neurological consequences.
 
Liver transplantation is a potentially life-saving treatment for 
Crigler-Najjar patients. A new liver has the ability to convert 
unconjugated bilirubin (that is unable to be excreted from the body) 
into conjugated bilirubin (that is able to be excreted from the body). 
Immunosuppressant medication (i.e., Prograf®) is required to prevent 
liver rejection and prophylactic medication (Bactrim®) is used against 
pneumocystis carinii pneumonia. Typically, these are the only two 
medications Crigler-Najjar patients require one year post 
transplantation. The patients still have the gene mutation causing the 
deficiency of glucuronyl transferase and can still pass the abnormality 
to their children.
 
A liver transplantation enables a Crigler-Najjar patient to function 
without the use of phototherapy and without the fear of neurological 
devastation and death from toxic unconjugated bilirubin levels.
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