Genetic and pediatric disorders

defects in collagen synthesis

tissues rich in collagen -> skin ligaments joints (very strechy people)

poor wound healing

most common AD disease

• It is caused by a loss-of- function mutation in the gene encoding the receptor for LDL

• “receptor disease”

• LDLs transport app 70% of the total blood cholesterol

• 1/3 of LDL+cholesterol is uptaken by scavenger receptor and metabolised in

  monocytes-macrophages

=> main complication artherosclerosis

inhibit activity of HMG-CoA reductase -> promote synthesis of LDL receptors

most common letheal AR disease

• People with cystic fibrosis inherit a defective gene called CFTR – cystic fibrosis transmembrane conductance regulator – chloride channel.

• Mutation causes the deletion of 3 bases in DNA resulting in phenylalanine not being coded for

-> misfolded protein disease

• primary affects lungs GI system and exocrine glands

• incurable

Caused by mutation in PAH gene codes for phenylalanine hydroxylase enzyme PAH

PHE accumulates in blood and brain => mental retardation

need special diet

• seizures

• irritability

• trmors

• jerking movements

• hyperactivity

• unusual hand posturing

• mousy body odor

• Mental retardation

• Unique facial features

• Eye abnormalities

• Gaping mouth and large tongue

• Heart diseases ! -> mortality

• Intestinal defects

• Hand abnormalities

• Abnormalities of toes

• kidney deformaties

• prone to leukemia and alzheimer

• consequence of maternal nondisjunction during meiotic division or robinson translocation

  
  

only one X

• Short stature

• Heart-shaped face

• Webbingofneck->

• Heartdisease

• Broad chest

• Cubitusvalgus

• Streakovaries, hypoplastic uterus, amenorrhea

• no estrogen -> infertile

• upper body more developed than lower

  
  

XXY

• Tall, long arms and legs

• Lack of beard, body hair, pubic hair

• Gynecomastia

• Femalelike hips

• Testicular atrophy, infertility

• IQ tends to be lower

• high waist

most common mental retardation form in men

• is a form of mental retardation linked to the gene called FMR-1 gene

• CGGtriplenucleotiderepeat

• The FMR-1 gene makes a protein needed for normal brain development

doesnt follow mendelaian genetics

• primary errors of morphogenesis

secundary destruction of an organ or body region

an extrinsic disturbances of development (amniotic fluid)

• multiple congenital anomalies that

  result from secondary effect of a single localised aberration in organogenesis

• presence of several defects that cannot be explained on the basis of a single localizing error in morphogenesis

agents taht cause fetal abnormalities

• Physical teratogens—x-rays, corpuscular radiation

• Chemical teratogens—industrial chemicals, drugs, alcohol

• Microbial teratogens—viruses, bacteria, protozoal parasites

• Retinoil (vitamin A) is essential for normal development and differentiation

• Excessive exposure to retinoic acid is also teratogenic (CNS, cardiac and craniofacial

defects- cleft lip and palate – TGF-ß signaling pathway)

• Toxoplasma

• Others (EBV, Listeria; Leptospira)

• Rubella

• Cytomegalovirus

• Herpesvirus

• Immature pneumocytes type II cannot secrete surfactant rich in lecithin

• Lecithinkeepsthe pulmonary alveoli open and prevents their collapse

• Most common in very-low-birth-weight infants (<1500 gm)

• Associated with enteral feeding

• Infection ???

• Any part of intestine

• Friable, congested, gangrenous, perforation with peritonitis

• High perinatal moratality

• Most common cause of death in infants beyond the immediate neonatal period

CAUSE NOT KNOWN -> baby completely healthy

Accumulation of edema fluid in the fetus during intrauterine growth

• Immune hydrops: blood incompatibility beteen mother and fetus (Rh or ABO) –hemolytic anemia

• Nonimmune hydrops: cardiovascular, fetal anemias other than Rh or ABO, transplacental infection, Turner syndrome, trisomy 21, tumors, metabolic disorders, ...

Type of sensibilization: • Pregnancy • Blood transfusion

• Antibody-induced hemolytic disease in the newborn

• Th: anti-D-Ig

parental diagnosis:

• Chordocentesis

• Chorionic villous sampling – CVS

• Screening tests - maternal blood analysis (Early combined screen marker test )

• Blood vessels and spaces lined by endothelial cells, celullar

• The most common neoplasm of infancy

• Spontaneously regress/ may enlarge

• von Hippel-Lindau syndrome

small blue cells (highly malignant)

• Tumors of sympathetic ganglia and adrenal

  medulla

• Derived from primordial neural crest cells

• Spontaneous regresson and/or therapy-induced regression and maturation.

• Variable clinical course and prognosis

• Secrete catecholamines, whose metabolites (VMA/HVA) can be used for screening patients

• 40% arise in the adrenal medulla

• Minute in situ lesion - large tumor mass big

• Fibrous pseudocapsula

• Infiltrative and invasive

• Soft, gray-tan, brainlike

• Necrosis, hemorrhage, cystic softening

• Small, round, blue cells

• Dark nuclei, scant cytoplasm with poorly defined borders

• Background: eosinophilic fibrillary material –neuropil – neuritic processes of the primitive neuroblasts

• The most commom primary tumor of the kidney in children; 2 – 5 years of age

• Sporadic or Syndromic

• Large, solitary, well- circumscribed mass

• Soft, homegeneous, grey, foci of hemorrhage and necrosis

• Biletaral / multicentric

85% treatment success

AD

gene that encodes for glycoprotein fibrillin-1

• Elongated head

• Eyeabnormalities

• Aortic aneurysm with dissection and exsanguination

-> a lot of connective tissue supporting aorta

• Floppy mitral valve

• Vertebral deformity

• Longfingers (arachnodactyly)