Metabolic Diseases - · PDF fileVitamin D Refractory Rickets. Hypophosphatasemia •...
Transcript of Metabolic Diseases - · PDF fileVitamin D Refractory Rickets. Hypophosphatasemia •...
Endrocrinopathies
• Anterior Pituitary• Posterior Pituitary• Thyroid• Parathyroid• Adrenal• Pancreatic Islets
Anterior Pituitary
• Growth hormone• Hyperpituitarism
– Acidophilic Adenoma– Gigantism– Acromegaly
• Deficiency of Growth Hormone– Dwarfism, diminutive stature
Hypopituitarism: Posterior PituitaryDiabetes Insipidis
• Infiltration of posterior pituitary by pathologic processes
• Langerhans Cell Histiocytosis, chronic disseminated form– Exophthalmos– Diabetes insipidis– Intraosseous lesions (including jaws)
• Loss of Anti-Diuretic Hormone secretion• Polyuria, Nocturia
Hyperparathyroidism• Primary form
– Parathyroid Adenoma or Hyperplasia• Secondary forms)
– Renal osteodystrophy– Hormone secreting small cell carcinomas (lung)
• Elevated levels of parathormone stimulate osteoclastic resorption• Elevated serum calcium, Low serum phosphate, normal alkaline
phosphatase• Osteolytic lesions (brown tumors): Giant cell tumors in many sites
including jaws• Stones, Bones, Abdominal Moans
– Urolithiasis secondary to hypercalciuria– Giant cell lesions of bone– Painful abdomen due to stones
Nutritional Diseases• Protein Deficiency(Kwashiorkor)• Caloric Deficiency(Marasmus)• Fat Soluble Vitamins
– Vitamin A– Vitamin D– Vitamin E– Vitamin K
• Water Soluble Vitamins– Riboflavin– Thiamine (Beri-Beri)– Nicotinamide (Pellagra)– Vitamin B12– Folic Acid
Ascorbic Acid Deficiency (Scurvy)
• Defective collagen synthesis• Vessel wall fragility, petechiae• Delayed wound healing• Excessive cartilage with defective osteoid
formation (scorbutic lattice – rib cage)• Periodontal Breakdown
Scurvy (avitaminosis C)
Chondroid nodules at costochondralJunction > Scorbutic Lattice
Accelerated Periodontitis
In-Born Errors of Metabolism(enzyme deficiency diseases)• Hematopoietic
– Thalassemia– Sickle Cell Anemia– Hemophilia (Pseudotumor)
• Lipid Reticuloendothelioses• Vitamin D Refractory Rickets• Hypophosphatasemia
Hemophilia• Two major forms and other rare forms
hemophila A factor VIII (X linked recessive)hemophila B factor IX
• Due to mutated clotting factors, a hemorrhagic diathesis occurs
• Bleeding tendencies are evident in childhood• Intraosseous hemorrhage leads to
“pseudotumors” that may occur in the jaws.
Vitamin D Dependent Hereditary Rickets
• Inherited as an autosomal dominant trait with inability to form 1α,25 dihydroxy-Vit D3– Type I – mutation in 1α hydroxylase– Type II – mutation in vitamin D receptor complex
• Coronal fissures in which bacteria can gain access to the pulp in the absence of carious lesions
• Periapical radiolucencies representing spread of endodontic infection
• Generalized features in common with vitamin D deficient rickets (without response to vitamin therapy)
Hypophosphatasemia• Defective ossification• Genetic defect in
alkaline phosphatase, an enzyme need for mineralization
• Dental manifestation: Cemental Agenesis Normal Cemental
Agenesis
Osteopetrosis (Marble Bone Disease)
• Albers-Schonberg Disease• A genotypically diverse group of diseases with similar
phenotype• Defective osteoclastic resorption resulting in dense,
generalized ossification, autosomal dominant and autosomal recessive forms
• Muations in Genes for carbonic anhydrase II, vacuolar protein pump of the brush border, cathepsin K (pycnodysostosis)
• Teeth are obscured by bone density as seen radiographically, impaired eruption
• Malignant forms with pancytopenia (myelophthisic anemia)