GENETIC DISEASES

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SIZE="5" COLOR="#FFFFFF" FACE="Arial" ><B>paediatry part 2</B></FONT><B>     </B><B>|     </B><A HREF="index.htm" TARGET="_top" TITLE="paediatry part 2"><U><B>home</B></U></A></div> <div> <A HREF="id18.htm" TARGET="_top" TITLE="PEARLS 1"><U>PEARLS 1</U></A>   |   <A HREF="id27.htm" TARGET="_top" TITLE="pearls2"><U>pearls2</U></A>   |   <A HREF="id30.htm" TARGET="_top" TITLE="Phenylketonuria (PKU)"><U>Phenylketonuria (PKU)</U></A>   |   <A HREF="id31.htm" TARGET="_top" TITLE="food poisoning"><U>food poisoning</U></A>   |   <A HREF="id32.htm" TARGET="_top" TITLE="acute otitis"><U>acute otitis</U></A>   |   <A HREF="id33.htm" TARGET="_top" TITLE="immunization"><U>immunization</U></A>   |   <A HREF="id34.htm" TARGET="_top" TITLE="craniofacial anomaly"><U>craniofacial anomaly</U></A>   |   <A HREF="id35.htm" TARGET="_top" TITLE="chiari malformation"><U>chiari malformation</U></A>   |   <A HREF="id36.htm" TARGET="_top" TITLE="PEDIATRIC RESPIRATORY DISORDERS"><U>PEDIATRIC RESPIRATORY DISORDERS</U></A>   |   <A HREF="id37.htm" TARGET="_top" TITLE="Cephalhematoma "><U>Cephalhematoma </U></A>   |   <A HREF="id38.htm" TARGET="_top" TITLE="Subgaleal Hematoma"><U>Subgaleal Hematoma</U></A>   |   <A HREF="id39.htm" TARGET="_top" TITLE="BIRTH INJURY "><U>BIRTH INJURY </U></A>   |   <A HREF="id40.htm" TARGET="_top" TITLE="infectious in a new born"><U>infectious in a new born</U></A>   |   <A HREF="id41.htm" TARGET="_top" TITLE="jaundice"><U>jaundice</U></A>   |   <A HREF="id42.htm" TARGET="_top" TITLE="INFANT OF DIABETIC MOTHER (IDM) "><U>INFANT OF DIABETIC MOTHER (IDM) </U></A>   |   <A HREF="id43.htm" TARGET="_top" TITLE="FETAL GROWTH "><U>FETAL GROWTH </U></A>   |   <A HREF="id44.htm" TARGET="_top" TITLE="Moebius Syndrome"><U>Moebius Syndrome</U></A>   |   <A HREF="id45.htm" TARGET="_top" TITLE="SHORT STATURE"><U>SHORT STATURE</U></A>   |   <A HREF="id46.htm" TARGET="_top" TITLE="MICROCEPHALIA"><U>MICROCEPHALIA</U></A>   |   <A HREF="id47.htm" TARGET="_top" TITLE="PIERRE ROBIN SYNDROME "><U>PIERRE ROBIN SYNDROME </U></A>   |   <A HREF="id19.htm" TARGET="_top" TITLE="Prenatal Diagnosis"><U>Prenatal Diagnosis</U></A>   |   <A HREF="id28.htm" TARGET="_top" TITLE="Febrile Seizures "><U>Febrile Seizures </U></A>   |   <A HREF="id20.htm" TARGET="_top" TITLE="dvlp bis"><U>dvlp bis</U></A>   |   <A HREF="id21.htm" TARGET="_top" TITLE="DEVELOPMENTAL NEUROLOGIC DISEASES"><U>DEVELOPMENTAL NEUROLOGIC DISEASES</U></A>   |   <B>GENETIC DISEASES </B>   |   <A HREF="id26.htm" TARGET="_top" TITLE="angelman syndrome"><U>angelman syndrome</U></A>   |   <A HREF="id23.htm" TARGET="_top" TITLE="TAYSACHS DISEASE"><U>TAY-SACHS DISEASE</U></A>   |   <A HREF="id24.htm" TARGET="_top" TITLE="krabbes disease"><U>krabbe's disease</U></A>   |   <A HREF="id25.htm" TARGET="_top" TITLE="Refsums Disease"><U>Refsum's Disease</U></A>   |   <A HREF="id29.htm" TARGET="_top" TITLE="meningitis"><U>meningitis</U></A>   |   <A HREF="id17.htm" TARGET="_top" TITLE="Contact Me"><U>Contact Me</U></A></div> <div> </div> </td> </tr><tr> <td valign="top" width=190 BGCOLOR="#FFFFFF" TEXT="#080000"> <div> <A HREF="id18.htm" TARGET="_top" TITLE="PEARLS 1"><U><B>PEARLS 1</B></U></A></div> <div> <A HREF="id27.htm" TARGET="_top" TITLE="pearls2"><U><B>pearls2</B></U></A></div> <div> <A HREF="id30.htm" TARGET="_top" TITLE="Phenylketonuria (PKU)"><U><B>Phenylketonuria (PKU)</B></U></A></div> <div> <A HREF="id31.htm" TARGET="_top" TITLE="food poisoning"><U><B>food poisoning</B></U></A></div> <div> <A HREF="id32.htm" TARGET="_top" TITLE="acute otitis"><U><B>acute otitis</B></U></A></div> <div> <A HREF="id33.htm" TARGET="_top" TITLE="immunization"><U><B>immunization</B></U></A></div> <div> <A HREF="id34.htm" TARGET="_top" TITLE="craniofacial anomaly"><U><B>craniofacial anomaly</B></U></A></div> <div> <A HREF="id35.htm" TARGET="_top" TITLE="chiari malformation"><U><B>chiari malformation</B></U></A></div> <div> <A HREF="id36.htm" TARGET="_top" TITLE="PEDIATRIC RESPIRATORY DISORDERS"><U><B>PEDIATRIC RESPIRATORY DISORDERS</B></U></A></div> <div> <A HREF="id37.htm" TARGET="_top" TITLE="Cephalhematoma "><U><B>Cephalhematoma </B></U></A></div> <div> <A HREF="id38.htm" TARGET="_top" TITLE="Subgaleal Hematoma"><U><B>Subgaleal Hematoma</B></U></A></div> <div> <A HREF="id39.htm" TARGET="_top" TITLE="BIRTH INJURY "><U><B>BIRTH INJURY </B></U></A></div> <div> <A HREF="id40.htm" TARGET="_top" TITLE="infectious in a new born"><U><B>infectious in a new born</B></U></A></div> <div> <A HREF="id41.htm" TARGET="_top" TITLE="jaundice"><U><B>jaundice</B></U></A></div> <div> <A HREF="id42.htm" TARGET="_top" TITLE="INFANT OF DIABETIC MOTHER (IDM) "><U><B>INFANT OF DIABETIC MOTHER (IDM) </B></U></A></div> <div> <A HREF="id43.htm" TARGET="_top" TITLE="FETAL GROWTH "><U><B>FETAL GROWTH </B></U></A></div> <div> <A HREF="id44.htm" TARGET="_top" TITLE="Moebius Syndrome"><U><B>Moebius Syndrome</B></U></A></div> <div> <A HREF="id45.htm" TARGET="_top" TITLE="SHORT STATURE"><U><B>SHORT STATURE</B></U></A></div> <div> <A HREF="id46.htm" TARGET="_top" TITLE="MICROCEPHALIA"><U><B>MICROCEPHALIA</B></U></A></div> <div> <A HREF="id47.htm" TARGET="_top" TITLE="PIERRE ROBIN SYNDROME "><U><B>PIERRE ROBIN SYNDROME </B></U></A></div> <div> <A HREF="id19.htm" TARGET="_top" TITLE="Prenatal Diagnosis"><U><B>Prenatal Diagnosis</B></U></A></div> <div> <A HREF="id28.htm" TARGET="_top" TITLE="Febrile Seizures "><U><B>Febrile Seizures </B></U></A></div> <div> <A HREF="id20.htm" TARGET="_top" TITLE="dvlp bis"><U><B>dvlp bis</B></U></A></div> <div> <A HREF="id21.htm" TARGET="_top" TITLE="DEVELOPMENTAL NEUROLOGIC DISEASES"><U><B>DEVELOPMENTAL NEUROLOGIC DISEASES</B></U></A></div> <div> <B>GENETIC DISEASES </B></div> <div> <A HREF="id26.htm" TARGET="_top" TITLE="angelman syndrome"><U><B>angelman syndrome</B></U></A></div> <div> <A HREF="id23.htm" TARGET="_top" TITLE="TAYSACHS DISEASE"><U><B>TAY-SACHS DISEASE</B></U></A></div> <div> <A HREF="id24.htm" TARGET="_top" TITLE="krabbes disease"><U><B>krabbe's disease</B></U></A></div> <div> <A HREF="id25.htm" TARGET="_top" TITLE="Refsums Disease"><U><B>Refsum's Disease</B></U></A></div> <div> <A HREF="id29.htm" TARGET="_top" TITLE="meningitis"><U><B>meningitis</B></U></A></div> <div> <A HREF="id17.htm" TARGET="_top" TITLE="Contact Me"><U><B>Contact Me</B></U></A></div> </td> <td valign="top" height=355 BGCOLOR="#FFFFFF" TEXT="#080000"> <div> GENETIC DISEASES </div> <div> <B>A. Sex Chromosome Abnormalities</B></div> <bR> <div> 1. Pseudohermaphrodite</div> <div> 2. Hermaphrodite</div> <div> a. Ova-testes</div> <div> b. Ambiguous genitalia</div> <div> 3. Conjoined Twins</div> <div> 4. Lyonization</div> <div> a. Random inactivation of an X chromosome</div> <div> b. Occurs days 16-19 of embryogenesis, during morula and blastula stages</div> <div> 5. Turner Syndrome</div> <div> a. Karyotype 45 X</div> <div> b. Lymphedema in newborn Female</div> <div> c. Normal mental function except some spatial processing problems</div> <div> d. Normal external genitalia</div> <div> e. Short stature with webbed neck and increase in arm carrying angle</div> <div> f. Blunted secondary sex characteristics with abnormal ovaries</div> <div> 6. Klinefelter Syndrome</div> <div> a. 47 XXY (or mosaic including this)</div> <div> b. Leydig Cell Hyperplasia</div> <div> c. Hypogonadism, Elevated FSH, Low testosterone</div> <div> 7. Fragile X Syndrome </div> <div> a. X-linked dominant inheritance with reduced penetrance</div> <div> b. Mental Retardation - common cause (1:1500 males, 1:2500 females)</div> <div> c. Penetrance is ~80% in males, 30% in females</div> <div> d. Fragile X chromosome Site at Xq27.3 (near end of long arm)</div> <div> e. Brought out by culturing cells in folate deficient medium</div> <div> f. FMR1 Gene - syndrome due to unstable CGG repeat within gene with hypermethylation</div> <div> g. Southern Blot and PCR analysis now available for diagnosis</div> <bR> <bR> <div> <B>AUTOSOMAL ABNORMALITIES</B></div> <bR> <div> <B>A. Down Syndrome</B> </div> <div> 1. Disease is due to Trisomy 21 (or part of 21)</div> <div> 2. There is increased expression of amyloid A protein (and others)</div> <div> 3. Mental retardation and premature Alzheimer's Disease occurs</div> <div> 4. Incidence ~1:800 live births </div> <div> a. ~50% of these are to mothers >35 years of age</div> <div> b. Risk for >35 year olds is ~1/200</div> <div> c. Risk for <25 year olds is ~1/1500</div> <div> 5. Risk of second Down's Child: ~1% (if due to chromosomal non-disjunction)</div> <bR> <bR> <div> <B>B. Marfan Syndrome</B> </div> <div> a. Autosomal dominant</div> <div> b. Ectasia of aorta</div> <div> c. Ophthalmologic abnormalities</div> <div> d. Elongated fingers, large hands</div> <bR> <bR> <div> <B>NEWBORN SCREENING</B></div> <bR> <div> <B>A. Tests Required</B> by most states are discussed below</div> <bR> <div> <B>B. Hypothyroidism</B> </div> <div> a. ~1:5000 live births</div> <div> b. Diagnosis made with TSH and T4 levels</div> <div> c. Failure to treat: irreversible mental retardation, growth failure, neurologic, cretinism</div> <bR> <div> <B>C. Phenylketonuria (PKU)</B></div> <div> a. Autosomal recessive trait</div> <div> b. Cannot metabolize phenylalanine</div> <div> c. ~1:10,000 live births</div> <div> d. Failure to treat: irreversible mental retardation</div> <bR> <div> <B>D. Galactosemia</B></div> <div> 1. Cannot metabolize galactose (galactase deficiency)</div> <div> 2. ~1:60,000 live births</div> <div> 3. Failure to treat: irreversible mental retardation, liver disease, vomiting, cataracts</div> <bR> <div> <B>E. Hemoglobinopathies</B></div> <div> 1. Abnormalities in hemoglobulin sequences (quality) and/or gene expression (quantity)</div> <div> 2. Mutations in hemoglobin gene expression lead to thalassemia diseases</div> <div> 3. Mutations in actual protein sequence of hemoglobin lead to abnormal red blood cells</div> <bR> <div> <B>F. Maple Syrup Urine Disease</B></div> <div> 1. Autosomal recessive, 1:200,000 live births</div> <div> 2. Disorder of branched chain amino acid metabolism</div> <div> 3. Accumulation of amino and oxoacids</div> <div> 4. Failure to treat: metabolic acidosis, hypoglycemia, death</div> <bR> <bR> <div> <B>G. Homocystinuria</B> </div> <div> 1. Autosomal recessive disease, 1:180,000</div> <div> 2. Absence of or severe decrease in cystathionine ß-synthase</div> <div> 3. Therefore, patients cannot convert homocysteine to cysteine</div> <div> 4. Untreated Disease: Signs and Symptoms</div> <div> a. Marfenoid appearance with stiff enlarged joints</div> <div> b. Thrombotic events </div> <div> c. Atherosclerosis <FONT SIZE="3" COLOR="#0000FF" FACE="Arial" ><U>"</U></FONT></div> <div> d. Osteoporosis</div> <div> e. Lens dislocation</div> <div> f. Psychosis </div> <div> 5. ~20% of patients will have a thromboembolic event by age 20</div> <div> 6. Management</div> <div> a. Increase in pyridoxine (prefer multivitamin or B complex) intake - 50% patients respond</div> <div> b. Add Betaine to therapy</div> <div> c. A low methionine or decreased protein diet may also be beneficial</div> <bR> <div> <B>H. Other Genetic Disorders</B></div> <div> a. Testing required in some states</div> <div> b. Biotinase deficiency</div> <div> c. Congenital Adrenal Hyperplasia</div> <div> d. Tyrosinemia</div> <div> e. Cystic Fibrosis - abnormal chloride channel </div> <div> f. Congenital Toxoplasmosis</div> <bR> <bR> <bR> <div> <B>CONGENITAL ABNORMALITIES</B> </div> <div> Approximately 3% of all newborn babies have some form of physical abnormality (major and minor). Internal abnormalities may manifest themselves at birth or remain occult. External abnormalities should be noted and recorded at birth. </div> <div>  <A NAME="1"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="1" ALIGN="bottom" WIDTH="1" HSPACE="0" VSPACE="0" ></A>e<B>tiology:</B> </div> <div> Hereditary - sex-linked, dominant or recessive, or multifactorial </div> <div> Genetic, but not hereditary e.g. mongolism in older mothers </div> <div> Infections, e.g. CMV, Rubella, Toxoplasmosis </div> <div> Drugs e.g. alcohol, warfarin, anticonvulsants </div> <div> Maternal illness e.g. diabetes </div> <div> Unknown - vast majority </div> <div> Early diagnosis of congenital abnormalities: </div> <div>  <A NAME="2"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="1" ALIGN="bottom" WIDTH="1" HSPACE="0" VSPACE="0" ></A><B>Indications for increased vigilance:</B> </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">family history of hereditary disorders: </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">excess or deficiency of amniotic fluid: </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Polyhydramnios - anencephaly </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">- high intestinal obstruction </div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="16" ALIGN="bottom" HSPACE="0" VSPACE="0">- maternal diabetes </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Oligohydramnios - renal disease </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">persistent fetal malposition and presentation </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">maternal ill-health in the first trimester e.g. rubella </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">drugs taken in the first trimester e.g. alcohol </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">history of recurrent fetal wastage </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">increased maternal age and parity </div> <div>  <A NAME="3"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="1" ALIGN="bottom" WIDTH="1" HSPACE="0" VSPACE="0" ></A><B>Definitive prenatal diagnosis:</B> </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Ultrasound scanning is a useful tool in detecting a wide variety of abnormalities e.g. hydrocephalus, bowel atresias, renal tract and cardiac anomalies, etc. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Radiological diagnosis - bone disease, e.g. osteogenesis imperfecta </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">auscultation e.g. fetal heart block </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">prenatal sexing </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">chromosomal studies on amniotic cells e.g. prediction of mongolism </div> <div>  <A NAME="4"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="1" ALIGN="bottom" WIDTH="1" HSPACE="0" VSPACE="0" ></A>The management of the situation and the family is of the utmost importance: </div> <div> Advise and support the family </div> <div> Discuss and explain reason for abnormality </div> <div> Correct abnormality where possible. </div> <div> Consider termination </div> <div> Discuss future pregnancies </div> <bR> <bR> </td> </tr></table></body>