Skip to main content

Treatment of Wilson disease

 What is the aim of treatment of Wilson disease?

Removal or copper deposited in various organ and

Prevention of reaccumulating.

Along with the pharmacological therapy people with Wilson disease should reduce the consumption of Copper containing food items.

 For Clinical features and diagnosis of Wilson Disease 

First introduced in 1956 AD and still the standard of treatment.

How does it act?

The sulfhydryl group in d-penicillamine chelates copper removes the copper from the tissue and out of the body via urinary excretion.

It can also induce the endogenous hepatic metallothionein, a cytosolic metal-binding protein, which sequesters copper and thereby limiting damage to the liver.


How penicillamine is absorbed?

Its absorption is decreased by as much as 50 percent when taken with food. Thus, it should be taken 1 hour before or 2 hours after meal.

What is the dose of D-penicillamine?

The drug is introduced at a dose of 250 to 500 mg/day and then increased by 250 mg every 4 to 7 days to a maximum of 1000 to 1500 mg daily in two to four divided doses.

For children and adults who weigh less than 45 kg, start with 250 mg daily with a maximum total daily dose of 20 mg per kg (rounded to the nearest 250 mg) or approximately 1000 mg in two or three divided doses.

What are the adverse effects of D-penicillamine?

Worsening of neurological symptoms or new onset neurological symptoms

Fever, arthralgia, cutaneous eruptions, thrombocytopenia, neutropenia

Nephrotic syndrome, Nephritic syndrome

Cutaneous manifestations like:

Elastosis perforans serpiginosa,

cutis laxa,


lichen planus, and aphthous stomatitis

It also lowers pyridoxine thus supplementation at low doses is necessary.

How D-penicillamine can worsen CNS symptoms?             

It is postulated that - Mobilization of hepatic copper stores leading to increased brain copper exposure, or the development of intracellular copper complexes can result in worsening neurological symptoms.

Triethylene tetramine hydrochloride                                                                                                                                       

First introduced in 1969 AD as a second line agent for copper chelation.

It also acts by copper chelation and then urinary excretion.

More copper is bound by D-penicillamine than Trientine.

Food and Trientine.

It should be given 1 hour prior or 2-3 hours after meal.

What are the adverse effects of Trientine?

Hypersensitivity reaction

Reversible sideroblastic anemia

Neurological worsening.

All these adverse effects are less common than D-penicillamine

Zinc salts are being increasingly used as first-line therapy for the treatment of presymptomatic patients and for maintenance therapy after initial decoppering with a chelator, but the efficacy of zinc monotherapy in symptomatic patients with liver disease is still under debate.

What is the mode of action of zinc?         

 It interferes with the absorption of copper. Metallothionein (an endogenous chelator of metals) in enterocytes is induced by zinc causing it to bind luminal copper and thereby preventing its entry into the circulation. This metallothionein bound copper is excreted fecally during normal turnover of enterocytes.

It may also induce hepatic metallothionein production.

What are the formulations for zinc?         

Zinc acetate – best absorption

Zinc gluconate – good alternative and better than Zinc sulphate – in terms of GI tolerability

Dosing of zinc-

Adults and children > 50 kg = 150 mg in 2 or 3 divided doses. Single daily dose is not effective

In case of children below 50 kg – 75 mg/day in 2 or 3 divided doses.


  1. Edward O. Thorp (the developer of card counting and an early hedge-fund pioneer) and Claude Shannon built the primary wearable pc to foretell the landing of the ball in 1961. This system worked by timing the ball and wheel, and utilizing the knowledge obtained to calculate the most likely octant the place the ball would fall. Ironically, this method works best with an unbiased wheel although it could still be countered quite simply by merely closing the table for betting before starting the spin. The most amount allowed to be wagered on a single guess in European roulette is predicated on a SM카지노 progressive betting mannequin. If the on line casino permits a most guess of $1,000 on a 35-to-1 straight-up, then on every 17-to-1 split linked to that straight-up, $2,000 additionally be} wagered.


Post a Comment

Popular posts from this blog

Cri du chat syndrome

  Cri du chat syndrome Also known as cat cry syndrome Deletion syndrome Incidence of 1 in 45000 livebirths 85% cases by de novo partial deletion of short arm of chromosome 5 15% parental translocation involving 5p. Clinical Features Mew-like cry early on in life that quickly resolves (apparently related to vocal cord abnormalities)  Low birth weight  Hypertelorism Microcephaly Down slanting of palpebral fissures of eyes Flat nasal bridge Epicanthic folds Ear shape abnormalities With advancing age, the clinical manifestations become less striking, making diagnosis more difficult.


What is the other name of Turner Syndrome? Ullrich-Turner syndrome  What is the m/c sex chromosome disorder in female? Turner syndrome and occurs in approximately 1 in 2000 to 1 in 2500 live female births. What are the genotypes of Turner syndrome? 45X monosomy in 45% of cases  45X mosaicism with normal cell line in 15% cases  X chromosome anomalies like - Isochromosome, Ring chromosome, Xp or Xq deletion Y chromosome mosaicism in 10-12% cases. What gene is responsible for short stature in Turner syndrome? SHOX (short stature homeobox-containing gene on the X-chromosome) is associated with short stature in Turner syndrome and in Leri-Weill dyschondrosteosis. What gene is responsible for gonadal insufficiency in Turner syndrome? BMP15 (bone morphogenetic protein 15 (BMP15) on the short arm of the X chromosome (Xp)). What is the frequency of the 45X karyotype at conception? 3% approx, but  99% of these are spontaneously aborted, accounting for 5–10% of all abortuses. Mosaics are found to

Congenital Hypertrophic Pyloric Stenosis

What are the parts of pylorus? The incisura angularis divides the stomach into a body to the left and a pyloric portion to the right. The sulcus intermedius further divides the pyloric portion of the stomach: the pyloric vestibule to the left, denoted by an outward convexity of the greater curvature. The pyloric antrum or pyloric canal to the right The pyloric antrum is 2.5 cm and terminates in pyloric orifice into duodenum.   What happens to the normal anatomical structural in CHPS? In infants with IHPS, the pyloric ring is no longer identifiable as a clearly definable separation between the normally distensible pyloric antrum and the duodenal cap. Instead, a channel of variable length (1.5–2.0 cm) corresponding to the pyloric canal separates the normally distensible portion of the antrum from the duodenal cap. ·          Infantile hypertrophic pyloric stenosis  was first fully described by  Harald Hirschsprung  in 1888. ·          IHPS VS CHPS - ????? IHPS is would b