Genetic Disorders Ii

GENETIC DISORDERS II R. HUGO MARTÍNEZ LOZANO, M.D. Sep-08, 2006

GENETIC DIS. 2 LEARNING OBJECTIVES: KNOW & UNDERSTAND ENZYMES: (LYSOSOMAL STORAGE DIS.) - PATH. MECHANISMS - TRANSMISSION - PATHO-CLINICAL TYPES ALT. IN REGULATION OF CELL GROWTH - NF-1 AND NF-2. IDEM. MULTIFACTORIAL DISORDERS 

REF: pp. 158-170 & LECTURE’S INFORMATION

LYSOSOMAL S. DISEASES PATHO-CLINICAL TYPES: 

LIPIDOSIS TAY-SACHS (GM2 GANGLIOSIDE) D. ENZYME: HEXOSAMINIDASE –A NIEMANN-PICK (SPHINGOMYELIN) D. ENZYME: (S…ASE) GAUCHER (GLUCOCEREBROSIDE) D. ENZYME: (G…ASE)

GANGLION CELL

TAY-SACHS DISEASE

ULTRASTRUCTURE: LYSOSOMES W/WHORLS

NIEMANN-PICK DISEASE 

TYPES: A: CLASSIC INFANTILE B: ADULTS C: CHOLESTEROL METABOLISM

NIEMANN-PICK

NIEMANN-PICK TYPE B

GAUCHER D. SUBTYPES:   

I: ADULTS-NO SNC-MILD TO SEVERE II: INFANTS-SNC-HIGHLY SEVERE III: CHILDHOOD-SNC-PROGRESSIVE

GAUCHER

MUCOPOLYSACCHARIDOSES MPS-I: “HURLER SYNDROME”  MPS-II: “HUNTER SYNDROME” - TYPICAL LESIONS: - OTHER LESIONS: 

COARSE FACIAL FEATURES

CORNEAL CLOUDING

MPS: HEART (ALCIAN BLUE)

ULTRASTRUCTURE: LAMELLATED (“ZEBRA”) BODIES

VON-GIERKE

“MISCELANEOUS”: POMPE

ALKAPTONURIA SYNONIMS: OCHRONOSIS, GARROD’S DISESASE ENZYME DEF: HOMOGENTISICOXIDASE RESULT: HOMOGENTISIC ACID ACCUMULATION

OCHRONOSIS

OCHRONOSIS: INTERVERTEBRAL DISCS INVOLVEMENT

OCHRONOSIS: JOINT INVOLVEMENT

HOMOGENTISIC AC. IN URINE

CELL CYCLE REGULATING PROTEINS DEFECTS 

NEUROFIBROMATOSIS 1 & 2.

A.D. - FRECUENCY: - 1:3000 - 100,000 p. (US) - TYPE 1: NF1 GENE—Neurofibromin (17q11.2) - TYPE 2: NF2 GENE—Merlin (22q12) MAJOR PATHOLOGICAL FEATURES…. -

SPINAL CORD SCHWANNOSIS

COMMON MULTIFACTORIAL DISORDERS

TOPHUS

IDEM

ANENCEPHALY

CONGENITAL PYLORIC HYPETROPH.

“SIETE CORAZONES TENGO, PERO EL MÍO NO LO ENCUENTRO. EN EL ALTO MONTE, MADRE, TROPEZÁBAMOS YO Y EL VIENTO. SIETE NIÑAS DE LARGAS MANOS ME LLEVARON EN SUS ESPEJOS. SIETE CORAZONES TENGO, PERO EL MÍO NO LO ENCUENTRO”. F. GARCIA LORCA.

QUESTIONS?