Genetic and Pediatric Diseases Chapter 6 Diseases Caused

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Genetic and Pediatric Diseases Chapter 6

Genetic and Pediatric Diseases Chapter 6

Diseases Caused by Mutations in Genes Encoding Structural Proteins Marfan Syndrome Ehlers-Danlos Syndromes

Diseases Caused by Mutations in Genes Encoding Structural Proteins Marfan Syndrome Ehlers-Danlos Syndromes

Marfan Syndrome: patient’s long fingers will show significant overlap

Marfan Syndrome: patient’s long fingers will show significant overlap

Normally, your thumb won’t stick out the end of your fist – but check

Normally, your thumb won’t stick out the end of your fist – but check out how far patient’s sticks out

Ehlers-Danlos Syndromes

Ehlers-Danlos Syndromes

Ehlers-Danlos Syndromes

Ehlers-Danlos Syndromes

Ehlers-Danlos Syndromes

Ehlers-Danlos Syndromes

Diseases Caused by Mutations in Genes Encoding Receptor Proteins or Channels Familial Hypercholesterolemia Cystic

Diseases Caused by Mutations in Genes Encoding Receptor Proteins or Channels Familial Hypercholesterolemia Cystic Fibrosis

Familial Hypercholesterolemia • Skin xanthomas • premature atherosclerosis

Familial Hypercholesterolemia • Skin xanthomas • premature atherosclerosis

Skin xanthoma

Skin xanthoma

atherosclerosis

atherosclerosis

Cystic Fibrosis • Mild to moderate changes of cystic fibrosis in the pancreas. •

Cystic Fibrosis • Mild to moderate changes of cystic fibrosis in the pancreas. • The ducts are dilated and plugged with eosinophilic mucin, and the parenchymal glands are atrophic and replaced by fibrous tissue

Lungs of a patient who died of cystic fibrosis • Extensive mucous plugging and

Lungs of a patient who died of cystic fibrosis • Extensive mucous plugging and dilation of the tracheobronchial tree are apparent. • The pulmonary parenchyma is consolidated by a combination of both secretions and pneumonia • the greenish discoloration is the product of Pseudomonas infections.

Pancreas in cystic fibrosis, severe degree: Interstitial fibrosis sparing islets

Pancreas in cystic fibrosis, severe degree: Interstitial fibrosis sparing islets

Lysosomal Storage Diseases Tay-Sachs Disease Niemann-Pick Disease Gaucher Disease

Lysosomal Storage Diseases Tay-Sachs Disease Niemann-Pick Disease Gaucher Disease

Tay-Sachs disease a large neuron has obvious lipid vacuolation

Tay-Sachs disease a large neuron has obvious lipid vacuolation

Tay-Sachs disease electron microscope A portion of a neuron shows prominent lysosomes with whorled

Tay-Sachs disease electron microscope A portion of a neuron shows prominent lysosomes with whorled configurations

Niemann-Pick disease in liver.

Niemann-Pick disease in liver.

 • The hepatocytes and Kupffer cells have a foamy, vacuolated appearance resulting from

• The hepatocytes and Kupffer cells have a foamy, vacuolated appearance resulting from deposition of lipids.

Gaucher disease involving the bone marrow: . abundant lipid-laden granular cytoplasm

Gaucher disease involving the bone marrow: . abundant lipid-laden granular cytoplasm

Electron micrograph of Gaucher cells with elongated distended lysosomes.

Electron micrograph of Gaucher cells with elongated distended lysosomes.