1 / 38

Dr . Muhammad Rafique Assist. Prof. Paediatrics College of Medicine K K U Abha K S A

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.

shing
Download Presentation

Dr . Muhammad Rafique Assist. Prof. Paediatrics College of Medicine K K U Abha K S A

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript


  1. Dr . Muhammad RafiqueAssist. Prof. PaediatricsCollege of MedicineK K U Abha K S A

  2. Common genetic disorders in KSA • Haemoglobinopathies • Neuro-genetic diorders • Metabolic disorders • Inborn error of metabolism • Birth defects

  3. 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

  4. 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.

  5. 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.

  6. 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.

  7. 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.

  8. 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.

  9. 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.

  10. 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.

  11. 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.

  12. 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%

  13. 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.

  14. 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.

  15. 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.

  16. 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)

  17. 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.

  18. 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

  19. 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.

  20. Diagnosis • Karyotyping. • During pregnancy increase alpha feto proteins • Confirmation by chr. Study by villus biopsy & amniocentesis. • USG of fetus,increasenuchal translucency.

  21. 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

More Related