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Autosomal Recessive Genetic Diseases

The cells in the human body normally contain 23 sets of chromosomes (half from each parent). Pairs 1 through 22 are the autosomal chromosomes, and pair 23 is the sex chromosomes that determine sex (XX for female and XY for male). An autosomal genetic disorder occurs with a mutation or abnormality in the genes in one or more pairs of autosomal chromosomes. If the disease is autosomal recessive, then both parents are carriers and do not have the disease, but both pass the abnormal genes to the child, who develops the active disease.

  1. Alpers' Syndrome

    • According to J.W. Ball and R.C. Binder in "Pediatric Nursing," Alpers' syndrome is a rare metabolic disorder that causes degeneration of the gray matter in the brain, resulting in seizures, increasing mental retardation, loss of muscle tone or spasticity, blindness and liver failure with death occurring usually in the first decade.

    Cystic Fibrosis

    • Cystic fibrosis is an exocrine gland disorder that affects mucus producing areas of the body. Thick tenacious mucus builds up and blocks tubes and ducts, such as the bronchial tubes in the lungs, the intestine, the pancreatic ducts and the vas deferens (causing infertility). CF also causes an abnormality in sweat glands so the body excretes excessive sodium (salt), resulting in dehydration.

    Polycystic Kidney Disease

    • According to the PKD Foundation, in autosomal recessive polycystic kidney disease, both kidneys develop multiple cysts in the nephrons, the filtering units. The kidneys are often very enlarged at birth. The impaired nephrons cannot adequately reabsorb fluid back into the blood stream, so the child passes large quantities of urine. Many children die during infancy and those who survive often require dialysis and/or kidney transplantation. Liver disorders are also associated with ARPKD.

    Sickle Cell Anemia

    • Sickle cell anemia causes a sickling of the red blood cells because of abnormal hemoglobin. The sickled cells can't move easily through small vessels and often stick together and form clots, which result in severe pain and tissue and organ damage. According to "Pediatric Nursing," the abnormal red blood cells live only up to about 20 days instead of 120, and the body can't replace the dying cells fast enough, so the person becomes anemic.

    Tay Sachs Disease

    • Tay Sachs disease, primarily affecting those of Ashkenazi Jewish heritage, results in abnormal deposits of fatty material in the neurons (nerve cells) of the brain. According to the National Institute of Neurological Disorders and Strokes, the child may seem normal at first, but as the deposits impair nerve function over the next few months, the child becomes increasingly disabled, brain-damaged, blind, deaf and paralyzed. The child loses the ability to swallow and muscles atrophy (shrink). Death usually occurs within the first four years of life.

    Thalassemia

    • Thalassemia is a genetic blood disorder that primarily affects those of Mediterranean descent, resulting in inadequate production of one of the components of hemoglobin in the red blood cells. The person develops anemia, but the severity may range from mild to severe, depending on the number of abnormal genes inherited.

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