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Dr . Muhammad Rafique Assist. Prof. Paediatrics College of Medicine K K U Abha K S A. Common genetic disorders in KSA. Haemoglobinopathies Neuro -genetic diorders Metabolic disorders Inborn error of metabolism Birth defects. Common genetic disorders in KSA.

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common genetic disorders in ksa
Common genetic disorders in KSA
  • Haemoglobinopathies
  • Neuro-genetic diorders
  • Metabolic disorders
  • Inborn error of metabolism
  • Birth defects
common genetic disorders in ksa1
Common genetic disorders in KSA

1-Chromosomal disorders e.g.

Down syndrome, Turner syndrome

2- Single gene defects (mendelian inheritance)

-AR

-AD

-X-linked recessive

-Multifactorial

common genetic disorders in ksa2
Common genetic disorders in KSA
  • Autosomalrecessive disorders;

SCD , thalasseia, CAH, GSD, CF, PKU,

propionicacidemia, galactosemia.

  • Autosomal dominant disorders;

Achondroplasia, c. spherocytosis,

osteogenesisimperfecta, polycystic kidney

disease, von-Willebrand disease.

common genetic disorders in ksa3
Common genetic disorders in KSA
  • X-linked recessive disorders;

Haemophilia A & B , G-6PD deficiency.

  • Multifactorial disorders;

cleft lip & palat, D. mellitus , asthma , CHD,

childhood obesity, pyloric stenosis , CD of

hip,clubfoot, ideopathicmental retardation

Idiopathic epilepsy , neural tube defects,

hirschsprung’s disease.

propionic acidemia
Propionic acidemia
  • IEM,AR disorder, in KSA-incidence 1:2000-5000
  • Deficiency of enzyme Propionyl CoA Corboxylase.
  • It is intermediate metabolite of isoleucine, valine threonine, methionine,oddchain fatty acids and cholesterol catabolism.
  • Mutant gene found for alpha subunit on 3q21-22 and for beta subunit on 13q32 .
  • Episode triggered- infection,constipation,high PD.
clinical findings
Clinical findings
  • Sever form present in neonatal period with –poor feeding- vomiting- hypotonia- lethargy-dehydration-ketoacidosis-coma & death.
  • Milder form ,infant may have MR , episodes of unexplained sever ketoacidosis.
  • Variable severity even in same family member
  • Older survivors have MR , dystonia, chorioethetosis , tremors and pyramidal signs.
laboratory findings
Laboratory findings
  • In episode sever metabolic acidosis neutropenia , thrombocytopenia hypoglycemia& high ammonia
  • High propionic acid in plasma and urine.
  • MRI and CT Scan brain show cerebral atrophy, demyelination due to past inforction as a result of metabolic stroke, cause of neurological sequelae.
diagnosis
diagnosis
  • Metabolic & MRI&CT brain findings , suggests.
  • Definitive Dx. By low enzyme activity in leukocytes and cultured fibroblasts.
  • Prenatal diagnosis possible by enzyme activity in amniocytes.
long term treatment
Long term treatment
  • Low protein diet, synthetic proteins.
  • Chronic alkaline therapy to correct ch. acidosis
  • Monitor growth parameters.
  • Long term prognosis is guarded.
  • Normal psychomotor development possible in milder forms.
  • Neurodevelopment deficit is dystonia, pyramidal signs and choreoethetosis.
treatment
Treatment
  • Correct dehydration with normal saline.
  • Correct acidosis with NaHCo3 .
  • Correct hypoglycemia with I/V dextrose water.
  • Minimal amount of proteins 0.25 g/kg/day.
  • Antibiotics, oral neomycin and also systemic.
  • L-cornitine 50-100 mg/kg/day.
  • Lower plasma ammonia, by sodium benzoate and if necessary by dialysis.
  • Biotin 10 mg/day orally.
sickle cell anaemia scd
Sickle cell anaemia/SCD
  • Hb. Molecule is tetramer(4 globin chains= 2 alpha & 2 beta chains) ,controlled by 2 genes.
  • AR disorder , common in KSA, gene at chr. 6.
  • SCA both genes have SC mutation. Hb-F=90%.
  • SCD, one gene has SC mutation one an other, like beta thalassemia, Hb.O Arab.Hb.F=50%
clinical manifestations
Clinical manifestations
  • Painful crises, abdomen, chest,bones, back etc.
  • Haemolytic crises, pallor, jaundace,fatigue.etc.
  • Aplastic crises,depressed 3 series of cells.
  • Vaso-occlusive crises, pain, stroke.
  • Infection-functional asplenia,poor opsonization
  • Splenic sequestration, Size increase.
  • Precipitating factors- acidosis,exposure to cold. ,physical stress, dehydration,hypoxia,infection.
diagnosis1
Diagnosis
  • Hb., cell count, peripheral blood picture.
  • Hb. electrophoresis. Hb-S 50-90%.
  • X-ray chest& hands , pulse oximetry, ABG’s.
  • MRI,CT-Scan brain to Dx. Inforction.
  • Trans-cranial MRA scan to predict stroke.
  • S.Bilirbin, urine c/e, blood c/s, CSF exam.
  • Pre-natal Dx. Possible by gene study.
  • Pre marital and newborn screening –must.
treatment1
Treatment
  • Admit. Hydrate, O2 therapy.
  • blood exchange/ transfusion.
  • Pain relief- paracetamol/ morphine.
  • Antibiotics.
  • Long term treatment;

-Avoid hypoxic condition.

-Prophylactic vaccination& penicillin.

-Folic acid, hydroxy urea, parent counseling.

down syndrome
Down syndrome
  • Most common autosomaltrisomy (chr. 21) comatible with life.
  • 95 % due to non disjunction.
  • 4% translocation b/w d & g group chr.
  • If father carrier ,recurrence 2-10 %.
  • If mother carrier ,recurrence 5-15%
  • 1% mosaic (normal & abnormal cells mixture)
clinical features
Clinical features
  • Gross generalized hypotonia.
  • Mental retadation.
  • Short stature.
  • Brachycephally (flat occiput)
  • Upward eye slant, medial epicanthic fold.
  • Tongue appears large and protruded.
  • Short and broad hand , single simian crease in 50%,Clinodactly , sandle sign in foot.
risk incidence
Risk incidence
  • Risk in non disjunction cases increases with increasing maternal age.
  • General population risk in females 1:700
  • Maternal age < 25years Risk—1:2000
  • Maternal age 35-39 years Risk—1:50
  • Maternal age >40 years Risk—1:20
clinical features1
Clinical features
  • CHD 40 – 60 %,commonest , AVSD.
  • TEF. deudenalatresia , hirschsprung’s disease.
  • Male infertile, female can reproduce.
  • Prolonged neonatal jaundice , polycythemia,.
  • 20times high risk for leukemia.
  • Hypothyroidism .D. Mllitus.,gall stones autosomaldiseasea,repeated chest infections.
diagnosis2
Diagnosis
  • Karyotyping.
  • During pregnancy increase alpha feto proteins
  • Confirmation by chr. Study by villus biopsy & amniocentesis.
  • USG of fetus,increasenuchal translucency.
prevention treatment
Prevention & treatment
  • Avoid late child bearing (after 35 years)
  • Family planning,Pre natal Dx.&proper decision
  • No treatment for disorders.
  • Therapy is directed to specific problem,e.g.

antibiotic for infections,

  • Anti CCF Tx. And cardiac surgery for CHD.
  • Support for parents