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 Lesch-Nyhan Syndrome

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PostSubject: Lesch-Nyhan Syndrome   Sat Dec 03, 2011 2:54 pm

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This is a very rare disorder present in the ratio of one: 400,000 males. This disorder is due to deficiency of enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). It is a hereditary disorder passed by the father to the son. The HPRT gene chiefly involves in producing purines, of the parts of DNA & RNA. Mutation in this gene causes an increase in the production of uric acid. This excessive production of uric acid causes destroy to the kidney. Other issues faced by Lesch-Lyhan Syndrome patients are poor muscle control, mental retardation and self-injuring behavior. An affected person has to live with various physical and mental issues all throughout his life. As the gene is located in the X-chromosome, this disorder is an X-linked inherited disease. As such males are mostly affected by the Lesch-Lyhan Syndrome and very seldom do females create this disease. Females are only carriers of the defective gene and pass it on to their male child
The symptoms of Lesch-Lyhan Syndrome start
as early as three months from the birth of the child. The first
indications are that of a baby which cannot hold its head up or sit
down. The mutilating behavior starts around the 2nd or 3rd year. The
child may try to bite off his lips or the fingers which is a clear
indication of self-injury. Another indication is that of sand-like
crystals of uric acid which are seen in the child's diapers. This is due
to over production of uric acid which forms crystals or stones in the
kidneys and bladders. These crystals may get deposited in joints at a
later stage resulting in diseases like arthritis which has a gout-like
swelling and tenderness. These stones often get mixed with urine and
causes hematuria or urinary track infections.
A patient with
Lesch-Lyhan Syndrome has abnormal muscle contraction which is seen by
way of loss of motor control, arching of the spine, overactive reflexes
and writhing motions. As pointed out earlier, the affected person has a
tendency for self-mutilating behavior and gets irritated easily which
leads to head-banging and biting off his fingers and lips. Stress plays a
major role in activating these tendencies. There are also indications
of aggressiveness, spitting, vomiting or swearing in this disorder. The
disease may, in most cases, confine the person to a wheelchair as he is
unable to walk throughout his life. Another complication is the
occurrence of megaloblastic anemia which is caused due to lack of HPRT,
which in turn is due to the body not utilizing the B12 vitamin.
A
Lesch-Lyhan Syndrome cannot be cured and in most probability the person
dies around the age of 15 - 25 yrs. Death usually occurs due to renal
failure. The treatment for Lesch-Lyhan Syndrome consists of various
methods. The Gout is treated with allopurinol which controls the
excessive amount of uric acid. The kidney stones which are present can
be treated with lithotripsy which is a technique for breaking the stones
with shock waves. Also a number of drugs are prescribed to control
excessive amount of uric acid production, or to control the motor
activities. The self-mutilation effect is reduced by a varied
combination of medical, physical and behavioral interventions. Most
often the teeth of the person are removed to stop the tendency of biting
off the lips, tongue and fingers. As stress is a major factor for
kindling the self-mutilating tendency, it is usually recommended to
prescribe aversive techniques.
The families of individuals
affected by Lesch-Lyhan Syndrome are recommended to go through various
testing and genetic counseling. The preimplantation Genetic Diagnosis
(PGD) test is nowadays conducted on the embryo to diagnose the genetic
effects and determine the sex before implantation. This reduces the
chance of having a Lesch-Lyhan Syndrome offspring.
Diagnosing
Lesch-Lyhan Syndrome at an early age is difficult as all the three
indications are not developed fully. As the child grows the three
elements i.e. neurological dysfunction, self-mutilation and uric acid
overproduction are identified clearly.






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PostSubject: Re: Lesch-Nyhan Syndrome   Sun Dec 18, 2011 7:05 am

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Signs and symptoms:

LNS is characterized by three above hallmarks: neurologic dysfunction,
cerebral and behavioral disturbances including self-mutilation, and uric
acerbic overproduction (hyperuricemia). Damage to the basal ganglia
causes sufferers to accept a appropriate angry attitude due to the
attributes of the lesion. Some may additionally be afflicted with
macrocytic anemia. Virtually all patients are male; males ache delayed
advance and puberty, and best advance ashen testicles or testicular
atrophy. Female carriers are at an added accident for gouty arthritis
but are usually contrarily unaffected.

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