Generalized lipodystrophy is a disorder characterized by loss of adipose tissue and, usually, metabolic disturbance due to deficiency of hormones derived from these tissues, most importantly leptin. Generalized lipodystrophy (GL) may be divided in congenital GL, also known as Berardinelli-Seip syndrome and acquired GL,…
Post-streptococcal glomerulonephritis is a renal disease that may be detected in individuals who were infected with certain strains of Streptococcus. Immune complexes produced in the course of immune defense then bind to glomeruli and trigger inflammation.
PG may not be diagnosed in patients who do not have a…
Gigantism is characterized by abnormal growth in children due to excessive production of insulinlike growth factor I (IGF-I). Basically there is excess production of growth hormone which contributes to the accelerated linear growth.
Children with gigantism are taller than other age matched children. In many instances,…
Beckwith-Wiedemann Syndrome is defined as an overgrowth disorder which is mainly characterized by an unusual growth pattern in infants together with an increased risk of getting cancer.
The patients of Beckwith Wiedemann Syndrome manifest the intrauterine signs and symptoms, but the pregnancy continues…
Sickle cell disease (sickle cell anemia, drepanocytosis) is an autosomal recessive blood disorder, characterized by sickle-shaped erythrocytes.
Chronic anemia is present in all individuals with sickle cell disease. It is generally asymptomatic, though patients report chronic fatigue and exercise intolerance.…
Glycogen storage disease type 1 (GSD 1), also known as von Gierke's disease or Glycogen storage disease due to G6P deficiency, is the most common of the glycogen storage diseases.
The major sign of GSD type 1 is the enlargement of the kidney and livers. In the first few weeks of life, the liver remains in its…
Launois syndrome (acromegalic gigantism) is typically caused by a pituitary tumor that secretes excess growth hormone. This condition results in the enlargement of skeletal and soft tissue, leading to characteristic gigantism and acromegaly.
Launois syndrome (LS), also known as acromegalic gigantism or pituitary…
Acute pyelonephritis is a condition incited by a bacterial infection that affects the parenchymal tissue of the kidneys. It is, most frequently, a complication of a lower urinary tract infection that has allowed pathogens to further infiltrate the kidneys; alternatively, bacteria can access the kidney through the…
Congenital nephrotic syndrome is an inherited disorder characterized by protein in the urine and swelling of the body.
Congenital nephrotic syndrome is a very rare form of nephrotic syndrome. It occurs predominantly in families of Finnish origin and manifests shortly after birth. It is an inherited disorder. The…