Non Communicable Disease

Non Communicable Disease

Diabetes, inflammatory diseases of joints such as arthritis, gout, cardiovascular diseases and cancer are common noncommunicable diseases.

Diabetes mellitus

Chronic hyperglycemia i.e., high glucose level in the blood; gene-related process leading to dysfunction or death of -cells.

Caused by relative or complete lack of insulin from -cells of Islets of Langerhans in pancreas.

Tested by blood and urine sugar levels.

 Arthritis

The inflammatory condition resulting in pain and swelling of joints.

Two types of arthritis : rheumatoid arthritis and osteoarthritis

Rheumatoid arthritis, inflammation in the synovial membrane occurs. In younger people called Still's disease.

Osteoarthritis, common in elderly persons caused by erosion of articular cartilage.

Treatment : Incurable; drugs available can relieve pain

Paraplegia

Refers to weakness or paralysis of limbs accompanied by loss of sensation

Usually caused by vehicular sports, accident, fall or gunshot wounds.

 Cardiovascular Diseases

Diseases associated with the blood vascular system. Some of these are:

 Rheumatic heart disease:

Most common in children

Pathogen : certain strains of Streptococcus bacteria. Spores have long incubation period.

Symptoms : joint pain with mild fever; membranous valves of heart get damaged in later stage.

Surface antigen of these bacteria is similar to an antigen on the surface of myocardium. The antibodies produced against Streptococcus reacts with myocardium causing heart defects and therefore it may also be considered as autoimmune defects.

 Hypertensive heart disease:

Caused by hypertension, i.e. increased blood pressure.

Serious hypertension results in chronic heart failure, in older people.

Coronary heart disease:

Due to blockage or wasting of coronary vessels resulting in inadequate supply of blood to the heart tissue.

May occur due to raised serum cholesterol, cigarette smoking, high blood pressure, physical inactivity, obesity and diabetes.

Angina pectoris chest pain caused mostly by myocardial anoxia.

 Myocardial infarction (MI) commonly called coronary or heart attack; occurs due to wasting of heart muscles.

Attacks often related to exertion, emotional disturbance and exposure to excess cold.

Arteriosclerosis is the hardening of arteries due to deposition of cholesterol on arterial wall.

Inborn errors of metabolism

First reported by Sir Archibald Garrod (1990), also called as "father of biochemical human genetics".

Several human diseases occur due to lack or defective genes; therefore, called inborn and inheritable.

Lack of some enzymes causing defect of related metabolism.

Mostly autosomal (genes present on autosomes) and almost all are recessive traits.

Appear only in homozygous conditions, the heterozygous individuals act as carriers.

Phenylketonurea (PKU) or Folling’s disease

Occurs due to lack of enzyme Phenylalanine oxidase.

Phenylalanine (amino acid) converted to phenylpyruvic acid instead of tyrosine; gets accumulated in brain and starts appearing in urine.

Ultimately harms brain and nerves causing mental retardation and paralysis.

Alkaptonuria (Black Urine Disease)

During metabolism of phenylalanine and tyrosin, homogentisic acid (or alcapton) is formed which under normal conditions degrade into CO2

and water by the enzyme homogentisic acid oxidase secreted from liver.

Due to lack of this enzyme the alcaptone is excreted with urine. When exposed to air or combining with alkali the alcaptone turns black. In such

persons the cartilage of ear, wrist, elbow etc. also colours black.

Albinism

Synthesis of melanin does not take place due to lack of tyrosinase and its metabolism is inhibited.

Lysosomal storage disease

Lysosomal defect due to lack of various enzymes; resulting in the storage of respective substances in the body causing following diseases:

Pompe’s disease:

Glycogen storage disease due to lack of α-1, 4-glycosidase.

Fatal, damage various organs but mainly causes cardiac failure in the 1st year of life.

Tay-Sach’s disease:

Due to lack of enzyme N-acetylgalactosaminidase, ganglioside is accumulated especially in brain cells.

Most common in American Jews (30% of population afflicted).

Child born is normal but later on the brain and spinal cord are affected.

Patient becomes paralysed and mentally retarded and dies within 3-4 years age.

Incurable; no survival.

Hurler’s Syndrome:

Occurs due to accumulation of mucopolysaccharide in the cells

Symptoms :

Mental and physical retardation in infants; with flat nose, wide set eyes, large lips and coarse tongue; do not survive beyond 20 years of age.

Gaucher’s disease:

Due to lack of enzyme glucosyl ceramide hydrolase clearing of ceramide from trihexoside is impeded causing deposition of the later in cells

Symptoms : destruction of lungs, and bones and enlargement of liver and spleen.

Niemann-Pick’s disease:

Due to lack of sphingomyelinase enzyme, the sphingomyelin accumulates in reticuloendothelial system.

Symptoms : brain retardation; enlargement of liver and spleen; affects bone marrow, muscular degeneration and also blindness.

Other inborn diseases

Cystic Fibrosis

Common among Caucasian population; involves abnormal functioning of several exocrine glands including liver, pancreas, sweat glands.

Symptoms : infection of lining of respiratory tract, decreasing its flexibility.

Anophthalmia:

Complete absence of eye in embryo due to lack of a gene.

Sickle cell anemia:

Sickle-shaped RBC; due to defect of haemoglobin (glutamic acid at 6th position in -chain of globin molecule replaced by valine.