Health and Fitness

Fibrillary Glomerulonephritis Overview Fibrillary GN is a disease which affects the millions of filtering units that make up the kidney. These filtering units are called glomeruli. Each individual glomerulus is composed of multiple layers of straining material. In this condition, the body produces a large volume of unusual proteins. These proteins enter the filters. The proteins become trapped in the straining layers, disrupting filtration. In some instances these proteins activate the immune system. This causes swelling in these delicate structures. Over time the swelling can damage the layers of the filters. The damage allows large amounts of proteins to spill into the urine. As the swelling progresses filtering units are damaged beyond repair. They are replaced by scar tissue. With the loss of enough filters, the kidneys lose the ability to filter and clean the blood. This condition is known as end-stage kidney disease. This disease has been found in patients age 10 to 89. It appear...

 Fibrodysplasia Ossificans Progressiva DISEASE OVERVIEW Fibrodysplasia ossificans progressiva (FOP) is a very rare genetic connective tissue disorder characterized by the abnormal development of bone in areas of the body where bone is not normally present (heterotopic ossification), such as the ligaments, tendons, and skeletal muscles. Specifically, this disorder causes the body’s skeletal muscles and soft connective tissues to undergo a metamorphosis, essentially a transformation into bone, progressively locking joints in place and making movement difficult or impossible. Patients with FOP have malformed big toes that are present at birth (congenital). Other skeletal malformations may occur. The abnormal episodic development of bone at multiple soft tissue sites frequently leads to stiffness in affected areas, limited movement, and eventual ankylosis (fusion) of affected joints (neck, back, shoulders, elbows, hips knees, wrists, ankles, jaw – often in that order). Episodic flare-u...

  FG Syndrome Type 1 DISEASE OVERVIEW FG syndrome type 1 (FGS1) is an X-linked genetic disorder that is characterized by poor muscle tone (hypotonia), intellectual disability, constipation and or anal anomalies and complete or partial absence of the part of the brain that connects the two hemispheres of the brain (corpus callosum). Other features of the disorder are small and simple ears, tall and prominent forehead, wide and flat thumbs and great toes and down slanting eyes. FGS1 is an X-linked genetic disorder typically caused by a change (variant or mutation) in the MED12 gene. The spectrum of disorders caused by variants in this gene is still being defined. Some individuals previously diagnosed with FGS1 do not have a MED12 gene variant and, therefore, probably have a different reason for intellectual disability. SIGNS & SYMPTOMS FG syndrome type 1 (FGS1) is an X-linked genetic disorder that is characterized by poor muscle tone (hypotonia), intellectual disability, constipa...

 Fetal Valproate Syndrome Summary Fetal valproate syndrome (FVS) is a rare condition that is caused by exposure of the unborn baby to valproic acid or sodium valproate (VPA) during the first three months of pregnancy (the first trimester). VPA is a medication used to treat certain types of seizures (epilepsy), bipolar disorder and migraines. Although many babies exposed to VPA are born healthy, a small percentage of pregnant women who take this medication can have a baby born with FVS. The exact prevalence of this condition remains to be established. Symptoms of this condition may include neural tube defects such as spina bifida, distinctive facial features, congenital heart defects and other musculoskeletal abnormalities. Introduction Anti-seizure medications, also known as antiepileptic or anticonvulsant medications are among the most common teratogens prescribed to women of childbearing age. Prenatal exposure to VPA causes teratogenic effects in the fetus, specifically FVS. A te...

Fetal Retinoid Syndrome DISEASE OVERVIEW Fetal retinoid syndrome is a pattern of mental and physical birth defects (congenital malformations) that can result from a mother taking retinoids during pregnancy. The absolute risk of congenital malformations following oral isotretinoin therapy is currently unclear. Overall malformation rates in liveborn infants from prospectively reported pregnancies range from 5% to 20%. Retinoids are the synthetic (man-made) forms of vitamin A used to treat various skin (dermatological) conditions. The most well-known retinoid is isotretinoin (commonly referred to by one of its former brand names, Accutane or Roaccutane, a drug used to treat severe cystic acne. Isotretinoin and its commercially available brands, although effective in the treatment of acne, can cause developmental abnormalities in the fetus (teratogenic effects) and therefore should not be used during pregnancy due to the risk of birth defects. The range and severity of associated abnormali...

  Ellis-Van Creveld syndrome DISEASE OVERVIEW Ellis-Van Creveld syndrome is a rare genetic disorder characterized by short limb dwarfism, additional fingers and/or toes (polydactyly), abnormal development of fingernails and, in over half of the cases, congenital heart defects. Motor development and intelligence are normal. This disorder is inherited as an autosomal recessive condition. SIGNS & SYMPTOMS Individuals with Ellis-Van Creveld syndrome typically have arms and legs that are abnormally short while the head and trunk are normal. Extra fingers (polydactyly) are present in all patients with this condition and both hands are usually affected. Ectodermal abnormalities include abnormal development of hair, nails and teeth. More than fifty percent of the patients with Ellis-Van Creveld syndrome are born with malformations of the heart. The most common heart defect is an abnormal opening in the wall between the two upper heart chambers (atrial septal defect). Other types of hea...

Leukocyte disorders Overview Your body produces white blood cells (leukocytes), which help fight bacterial infections, viruses and fungi. If your child has too few or too many white blood cells, in general, here's what it means: Low white blood cell count (leukopenia) means having too few leukocytes circulating in the blood. A long-term low white blood cell count increases the risk of infections and may be caused by a number of different diseases and conditions. High white blood cell count (leukocytosis) means having too many leukocytes circulating in the blood, usually from having an infection. A number of different diseases and conditions may cause a long-term high white blood cell count. There are several types of white blood cells, each with a different disease-fighting activity. The main types are: *Neutrophils *Lymphocytes *Monocytes *Eosinophils *Basophils White blood cell disorders involving a specific type of white blood cell include: *Neutropenia. Neutropenia (noo-troe-P...

Ferroportin Disease   DISEASE OVERVIEW Ferroportin disease, also known as hemochromatosis type 4, is a rare genetic disorder characterized by the abnormal accumulation of iron in the body. Ferroportin disease is caused by changes (variants or mutations) of the SLC40A1 gene. The specific symptoms associated with ferroportin disease can vary greatly from one person to another. Some individuals may only have elevated levels of ferritin, a protein that binds to iron and is used as an indicator of the body’s iron stores in the blood plasma. Other individuals may develop symptoms similar to classic HFE-related hemochromatosis. Ferroportin disease is classified as an iron overload disorder, a group of disorders characterized by the abnormal accumulation of iron in the body. It is a separate, distinct disorder from classic hereditary hemochromatosis. Ferroportin disease is caused by variants in a different gene and is inherited in a different manner from other forms of hemochromatosis...

 Fatal Familial Insomnia Summary Fatal familial insomnia (FFI) is a rare genetic degenerative brain disorder. It is characterized by an inability to sleep (insomnia) that may be initially mild, but progressively worsens, leading to significant physical and mental deterioration. Affected individuals may also develop dysfunction of the autonomic nervous system, the part of the nervous system that controls involuntary or automatic body processes – which are things that happen without a person thinking about them, such as body temperature regulation, sweating, breathing or regulating the heart rate. Specific symptoms depend on the part of the autonomic nervous system that is affected by the disease. In all instances, FFI is caused by an abnormal variant in the prion-related protein (PRNP) gene, although sometimes, the disorder occurs randomly, without a variant PRNP gene (sporadic fatal insomnia, or SFI). The PRNP gene regulates the production of human prion protein. Alterations in thi...

 Familial Hypercholesterolemia Overview Familial hypercholesterolemia affects the way the body processes cholesterol. As a result, people with familial hypercholesterolemia have a higher risk of heart disease and a greater risk of early heart attack. The genetic changes that cause familial hypercholesterolemia are inherited. The condition is present from birth, but symptoms may not appear until adulthood. People who inherit the condition from both parents usually develop symptoms in childhood. If this rare and more severe variety is left untreated, death often occurs before age 20. Treatments for both types of familial hypercholesterolemia include a variety of medications and healthy-lifestyle behaviors. Symptoms Adults and children who have familial hypercholesterolemia have very high levels of low-density lipoprotein (LDL) cholesterol in their blood. low-density lipoprotein (LDL) cholesterol is known as "bad" cholesterol because it can build up in the walls of the arteries,...