RA (Rheumatoid Arthritis) : Rheumatoid arthritis (RA) is a chronic systemic inflammatory disease of unknown cause. An external trigger (eg, infection, or trauma) that triggers an autoimmune reaction, leading to synovial hypertrophy and chronic joint inflammation along with the potential for extra-articular manifestations, is theorized to occur in genetically susceptible individuals. In most patients with RA, onset is insidious, often beginning with fever, malaise, arthralgias, and weakness before progressing to joint inflammation and swelling. Signs and symptoms of rheumatoid arthritis may include the following: • Persistent symmetric polyarthritis (synovitis) of hands and feet (hallmark feature) • Progressive articular deterioration • Extra-articular involvement • morning stiffness lasting more than one hour for at least six weeks • Difficulty performing activities of daily living • Constitutional symptoms Nonbiologic disease modifying antirheumatoid drugs (DMARDs ) include Hydroxychloroquine, Azathioprine, Sulfasalazine, Methotrexate, Leflunomide, Cyclosporine, Gold salts and D-penicillamine. Biologic TNF-inhibiting DMARDs include Etanercept,Infliximab, Adalimumab and Certolizumab. Biologic non-TNF DMARDs include Rituximab, Anakinra, Abatacept, Tocilizumab and Tofacitinib. Other drugs used therapeutically include Corticosteroids, Nonsteroidal anti-inflammatory drugs (NSAIDs) and Analgesics.


Wilson's disease : Wilson's disease is an inherited disorder in which there is too much copper in the body's tissues. The excess copper damages the liver and nervous system. Causes Wilson's disease is a rare inherited disorder. If both parents carry an abnormal gene for Wilson's disease, there is a 25% chance in each pregnancy that the child will have the disorder. Wilson's disease causes the body to take in and keep too much copper. The copper deposits in the liver, brain, kidneys, and the eyes. The deposits of copper cause tissue damage, death of the tissues, and scarring, which causes the affected organs to stop working correctly. This condition is most common in eastern Europeans, Sicilians, and southern Italians, but may occur in any group. Wilson's disease typically appears in people under 40 years old. In children, the symptoms begin to show by age 4. Symptoms • Abnormal posture of arms and legs • Confusion or delirium • Dementia • Difficulty moving arms and legs, stiffness • Difficulty walking (ataxia) • Emotional or behavioral changes • Enlargement of the abdomen (abdominal distention) • Personality changes • Phobias, distress (neuroses) • Slow movements • Slow or decreased movement and expressions of the face • Speech impairment • Tremors of the arms or hands • Uncontrollable movement • Unpredictable and jerky movement • Vomiting blood • Weakness • Yellow skin (jaundice) or yellow color of the white of the eye (icterus) Treatment The goal of treatment is to reduce the amount of copper in the tissues. This is done by a procedure called chelation -- certain medications can bind to copper and help remove it through the kidneys or gut. Treatment must be lifelong. The following medications may be used: • Penicillamine (Cuprimine, Depen) binds to copper and leads to increased release of copper in the urine. • Trientine (Syprine) binds (chelates) the copper and increases its release through the urine. • Zinc acetate (Galzin) blocks copper from being absorbed in the intestinal tract. Vitamin E supplements may also be used.


Cystinuria : Cystinuria is a rare condition in which stones made from an amino acid called cystine form in the kidney, ureter, and bladder. The condition is passed down through families. Cystinuria is caused by too much of an amino acid called cystine in the urine. After entering the kidneys, most cystine normally dissolves and goes back into the bloodstream. But people with cystinuria have a genetic defect that interferes with this process. As a result, cystine builds up in the urine and forms crystals or stones, which may get stuck in the kidneys, ureters, or bladder. Symptoms • Blood in the urine • Flank pain or pain in the side or back. Pain is usually on one side; it is rarely felt on both sides. Pain is often severe. It may get worse over days. You may also feel pain in the pelvis, groin, genitals, or between the upper abdomen and back. Medications • Medications may be prescribed to help dissolve the cystine crystals. Eating less salt can also decrease cystine release and stone formation. Medications known as chelating agents will help to dissolve the cysteine crystals. These drugs work by chemically combining with the cysteine to form a complex that can then dissolve in the urine. Examples include D-Penicillamine and alpha-mercaptopropionylglycine. D-Penicillamine is effective, but it has many side effects. Pain medications may also be prescribed to control pain while the stones pass through the bladder and out of the body. Surgery • There are a few different types of surgeries to break up the stones. These include the following procedures: • extracorporeal shock wave lithotripsy (ESWL): a procedure that uses shock waves to break up large stones into smaller pieces. However, this procedure is not as effective for cysteine stones compared to other types of kidney stones. • percutaneous nephrostolithotomy (or nephrolithotomy): a procedure that involves passing a special instrument through your skin and into your kidney to take out the stones or break them apart.