HUMAN DISEASES (Part 6 of 7)   Leave a comment

Other Metabolic Diseases

Gout is faulty metabolism of purine, an amino acid, resulting in the accumulation of uric acid in the blood and urate salts in the tissues, especially the joints where they cause painful arthritis. It may stem from an inborn error of metabolism or from other diseases. It usually strikes middle-aged men. The joint at the base of the big toe is the typical site of a sudden acute attack of gout. The affected joint becomes red, hot, swollen, and painful. Fever accompanies the attack. Joints of other limbs might become similarly affected. Attacks of gout recur, but the sufferer enjoys complete relief in between them. Some patients develop chronic arthritis from gout. Gout is treated with low-purine foods and such drugs as allopurinol that lower the uric acid level of the blood.

Cystic fibrosis, an inherited disease in which the pancreas fails to provide secretions necessary for normal digestion of food; commonly associated with chronic lung disease.

Cystic fibrosis is a genetic disorder involving the pancreas and the lungs. It appears during the first 10 years of life, although sometimes it is not discovered until later. Certain glands of the pancreas become plugged by thick mucus, which bottles important digestive enzymes. Intestinal troubles result.

Furthermore, the lungs suffer scarring, infection, and eventual emphysema. Cystic fibrosis is treated with substitute pancreatic enzymes, vitamins, and a high-calorie diet. Antibiotics are given to fight the lung troubles.

Other metabolic disorders include phenylketonuria (PKU) and galactosemia. PKU is an inherited inability to metabolize phenylalanine, an amino acid. Galactosemia is an inherited inability to change galactose, one type of sugar, into sucrose, another, because a necessary enzyme is missing. Both diseases can result in mental retardation of children if not corrected in time.

Arthritis and Lupus

Rheumatoid arthritis (RA), chronic disease of the connective tissue, causing painful sensations in joints and muscles.

When the body fails to recognize itself, it makes antibodies against its own tissues. Rheumatoid arthritis and systemic lupus erythematosus are two among a rising number of such autoimmune diseases.

Rheumatoid arthritis is a chronic crippling disease that deforms bone joints and their adjacent tissues. It can strike nearly anyone. Although arthritis is not especially prevalent in damp climates, its symptoms are more bothersome there. It is marked by inflammation of an entire joint, including its synovial lining. Tendon coverings and bursas, or fluid-filled cushions, can become inflamed too. Cartilage in the joint and adjacent bone are destroyed, causing painful stiffness and eventual ankylosis, or “freezing,” of the joint. Skin over the joint is taut, shiny, and clammy. Arthritics often suffer aches and pains. The rheumatoid factor, a large protein molecule, is present in the blood of so many adult patients that it aids in the diagnosis of the disease. Rheumatoid arthritis is usually treated with rest, physical therapy, and aspirin and other salicylates.

Systemic lupus erythematosus (SLE), or lupus, is a serious degenerative disease that can strike one or many body systems over a period of years. The blood serum of afflicted persons contains a number of peculiar proteins, including the so-called L.E. factor, the antibody characteristic of the disease. Symptoms of SLE resemble other diseases, including cancer and tuberculosis, but lesions around the nail beds and fingertips that destroy the skin in those areas earmark lupus. In addition, the spleen and lymph glands of the neck and armpits may enlarge. The pericardium and heart valves are affected too. The kidneys and portions of the central nervous system may also become damaged. Although anyone may be affected, females between the ages of 20 and 40 years most often develop this incurable disease.

Osteoarthritis is a painfully disabling disease of the spine and other weight-bearing joints. Cartilage in the joint is destroyed, followed by overgrowth of nearby bone. The incurable but non deforming disease develops with advancing age.

Ankylosing spondylitis is a disabling and deforming disease of the spine, sacroiliac joints, and sometimes the shoulders, hips, and knees. The synovial lining of the affected joint becomes inflamed, the bone is weakened by loss of calcium, and the spine is bent forward. Eventually, the spinal vertebrae fuse and the spine becomes locked in the deformed position.


Disease can affect any of the parts of the closely related urinary and genital systems. Both can be infected or malfunction because of a shortcoming in development.

Kidney Inflammations

Kidney disease, commonly result of inflammation or damage to blood vessels of kidneys; severe forms lead to breakdown of normal elimination of waste products.

Glomerulonephritis is a serious inflammatory disease of the kidneys. It usually is triggered by a prior infection, often by streptococcal bacteria, which inflames the glomeruli, the tiny tufts through which blood is filtered. The inflammation may go away after a few weeks or may slowly destroy all the glomeruli. In the early stages, the inflammation may reduce filtration enough to cause blood to retain some excess fluid, salts, and wastes. Blood pressure might also rise. If the inflammation persists, the glomeruli are destroyed, blood pressure soars, and urine formation may stop. Mechanical means must be taken to cleanse the blood.

Pyelonephritis, bacterial infection of the inner portions of the kidneys and the urine.

Pyelonephritis is a bacterial infection of the inner portions of the kidneys and the urine. If quickly treated, the infection can be cured. If untreated, however, the infection may scar and eventually destroy kidney tubules, resulting in a need for mechanical cleansing of the blood. Once damaged by a bout of pyelonephritis, the kidneys are easily reinfected.

Toxaemia of pregnancy is a disorder stemming from other kidney problems experienced by some women in the last half of pregnancy. During a pregnancy, the kidneys must work more than usual. However, a woman entering pregnancy with a kidney disease such as Glomerulonephritis may not be able to step up kidney function enough to meet the new demands. In severe cases of toxaemia, the foetus may die or have to be aborted to save the mother’s life. In lesser cases, however, medical treatment poses little risk to either life. Once a woman develops toxaemia, she is likely to develop it again in later pregnancies.

Calculi and Other Urinary Disorders

Calculus disease, condition that occurs when certain substances in urine crystallize into compact stones.

Calculus disease occurs when certain substances in urine crystallize into compact stones called calculi. A stone may be formed within a kidney and become swept by urine into the ureters and the bladder. It may cause pain, obstruct urine flow, or grow large enough to damage the kidney or bladder. Small calculi may be passed in urine, and large ones can be pulverized without surgery by means of energetic sound waves. Calculi can consist of calcium, urates, cystine, or other crystals. The tendency to form kidney stones sometimes runs in families.

Polycystic disease, an inherited failure of normal kidney development, strikes infants as well as adults. Many fluid-filled cysts spring up throughout the kidneys and cause them to malfunction. Polycystic disease sufferers eventually become uraemic

Uraemia means “urine in blood.” It describes the condition in which the kidneys almost totally fail to operate. The blood then retains the nitrogenous products of protein metabolism instead of having them removed by the kidneys. Also, the concentration of many of the electrolytes, or salts, in the blood rises too high. The breath or perspiration of affected persons smells of urine. Each of the previously mentioned kidney ailments could cause uraemia Artificial kidneys have been developed to cleanse the blood of uraemic patients. In some cases, patients with destroyed kidneys can receive a human kidney transplant.

Genital Disorders

Sometimes portions of the genital system fail to develop normally. In some rare cases, the gonads male testes and female ovaries or other sex structures fail to develop at all. Without gonads, a person neither achieves puberty nor develops secondary sexual characteristics, such as breasts and uterus growth in females and penis growth and muscle development in males.

Infections such as gonorrhoea can cause sterility by blocking the oviducts, or egg passages, of females or the vas deferens, or sperm passages, of males. In males, gonorrhoea may also interfere with urination.

The prostate gland at the neck of the bladder in males enlarges slowly with age. It eventually may hamper urination and need surgical correction.


Rehabilitation is a fairly new medical speciality, although the notion of helping someone cope with a disabling disease or disorder is an old one. As an increasing number of people become disabled by stroke, paraplegia (paralysis of the lower body), limb losses, and many chronic nervous system and other physical disorders, it has been shown that medical rehabilitation can help many of them live a reasonably normal life. This is true even when the handicapping problem is not medically correctable.

Rehabilitation means getting utmost use from the limbs, senses, or other body systems that remain in operation after a chronic disability. Its goal is to help the patient become as independently active as possible. The disabling condition might result from a disease, birth defect, or severe accident. Sometimes rehabilitation involves fitting an amputee with an artificial limb, fitting a lame person with a brace, or teaching a paraplegic how to manoeuvre a wheelchair. Sometimes it only involves counselling and other psychological techniques for persons who are mentally disabled.

In its early days medical rehabilitation concentrated on helping people who had walking and other movement problems. The advances made in rehabilitating them sparked efforts to aid people who were stricken by stroke, chronic arthritis, and spinal cord disease and other chronic nervous system disorders. Afterwards, it was learned that rehabilitation could also help patients with heart disease, chronic lung disease, and a variety of conditions that slowed recovery from surgery. Bio engineers have been successful in devising artificial limbs and other life support structures that function so much like natural ones that recipients no longer suffer a disabling handicap.

Rehabilitation is a team effort. It requires the work and dedication of physicians, physical therapists, occupational therapists, psychologists, social workers, and vocational counsellors The doctor and the physical and occupational therapists work to restore those body functions impaired by the disability. The psychologist, social workers, and vocational counsellor help the patient get a mental grip on himself to better deal with the emotional and social problems brought on by the disability. Members of a coordinated rehabilitative team can do wonders in restoring a handicapped person to a functional life.

In addition, the rehabilitative team works with a disabled person to prevent the physical deterioration that takes place when muscles are not used. Furthermore, the team aims at getting the maximum output from the patient’s remaining body functions. Exercises and other means are used to develop fully the remaining physical reserves because disabled persons expend more energy and need more stamina to do ordinary things than do non disabled persons.

Teaching new tasks to the disabled is an integral part of physical rehabilitation. For example, a crippled person may be trained to use a wheelchair or other motive device well enough to manage into the driver’s seat of an auto mobile and thus achieve a measure of independence, the important goal of the entire rehabilitative process.

A chronically disabled person often suffers mental depression. The rehabilitation team tries to restore that person’s confidence so that he can take an optimistic view on resuming daily activities. Positive attitudes of patient, friends, and family toward any disability are important factors in the success of rehabilitation. During rehabilitation the patient is encouraged to find meaning in life, overcome feelings of being a “permanent patient,” and resume his place as an active member of society. Counselling is also important in rehabilitating alcoholics and the mentally ill.

Treatment for the disabled is given at special rehabilitation centres or in the rehabilitation departments of some hospitals. Rehabilitation units are designed so that patients can do many things by themselves; the quarters are built to simulate conditions the patients will encounter when discharged. As a consequence, patients get practice in dealing with such problems as opening and closing doors, going up and down stairs, and a host of other environmental situations that they will face when the rehabilitation program is over.


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