Download presentation
Presentation is loading. Please wait.
Published byEunice Moore Modified over 9 years ago
1
SCREENING FOR CONGENITAL HYPOTHYROIDISM AND PHENYLKETONURIA IN MURES COUNTY -RESULTS AND FOLLOW-UP- Author: Dr. Campean Cristina Coordinators: Conf. Dr. Pascanu Ionela Asist univ. Dr. Pitea Ana Maria
2
BACKGROUND A national screening program for congenital hypothyroidism (CHT) and Phenylketonuria (PKU) was started in 2009. CHT -the most frequent endocrine disease in children. Neurologic, motor and growth deficiencies Mental retardation. The prevalence of CHT: 1:4000 newborns
3
BACKGROUND PKU Metabolic disease Enzimatic deficiency (phenylalanine hidroxilase) Severe psycho-neurological retardation. The prevalence of PKU - 1:3000-1:30000 in Europe
4
HYPOTHYROIDISM- SIGNS AND SYMPTOMS Hypotonic posture Myxedematous facies Macroglossia Umbilical hernia Poor feeding and growth Constipation Prolonged jaundice Hoarse cry Hypothermia astogi and LaFranchi Orphanet Journal of Rare Diseases 2010 5:17
5
PKU- SIGNS AND SYMPTOMS Mental retardation Epilepsy Stunted growth Eczema Microcephaly Musty odor Fair skin and hair, blue eyes
6
OBJECTIVES Evaluation of the results of the screening program for CHT and PKU in Mures county. Follow-up of confirmed cases.
7
METHODS The study included all children born in the 8 maternities in Mures County screened for CHT and PKU from 2009-2013. The levels of thyroid stimulating hormone (TSH) and phenylalanine (Phe)- fluorometric assay. TSH >10 µUI/L, Phe > 3 mg/dl Retested
8
METHODS Screening procedure: (Day2-4) Capillary blood sample from the heel „heel stick procedure” Filter paper Laboratory TSH>10mU/l/Phe>3mg/dl Public health authority Endocrinologist, Pediatrician Family of the newborn Retrospective study: Screening data from the public health authority / CHT pacients - Endocrinology clinic/ PKU pacients-Pediatrics I clinic
9
RESULTS YEAR20092010201120122013TOTAL NEWBORNS5720561658795822568328720 TESTED1788551655035716562824151 % TESTED 31%98%93%98%99%84% CHT POSITIVE SCREENING -975728 CHT CONFIRMED CASES -11316 PKU POSITIVE SCREENING 123118 PKU CONFIRMED CASES 121116 Prevalence 1:4.025 for PKU and CHT 84% of newborns were screened(97% between 2010-2013) 21% of positive CHT screening cases were confirmed, 75% for PKU
10
NameScreening ConfirmationData/ valoare03.201205.201207.201208.201201.2014 P. Maria9,1 mg/dl10,1 mg% 31.01.2012 Phe serica 14,4 mg/dl - cantitativ 10,98 mg/dl 14.03.2012 1,3 mg% - 08.08.2012 1,3 mg% M. Ioan32 mg% 31.01.2012 semicantitativ 14,5 mg/dl - cantitativ 5,9 mg/dl 14.05 2012 12 mg% S. Brigitta >3mg% 14.05 2012 1,8 mg% A. Szilard >3mg% S. Tudor>3 mg%7,4 mg% 09.07.2012 9 mg% 31.07.2012 1,1 mg% 22.01.2014 2.4 mg% C. Adina13.4mg %15.9 mg%2013 30.04.2013 35.0 mg% 22.05.2013 13.0 mg% 12.06.2013 5.0 mg%
11
Name Date of birth TSH value at screening TSH uUI/ml / FT4 ng/dl (vn:0,38-4,31 µUI/ml) F.A. 07 09 2010 163 Repeated 176 27 07 2011 TSH: 54.35 FT4: 0.97 21 05 2012 TSH 188.43 FT4: 0.19 22 08 2012 TSH 77.33 FT4 1.25 23 05 2013 TSH: 41.8 FT4: 1.22 19 03 2014 TSH: 15.1 FT4: 1.09 L.A. 25 08 2011 18.68 Repeated 27.7 21 09 2011 TSH: 13.21 FT4:1.43 G.S. 18 08 2012 22 uuI/ml 21 repetat 15 10 2012 TSH: 3.26 FT4: 1.1 L.L. 10 09 201215 uuI/ml 19 10 2012 TSH: 5.24 FT4: 1.14 C.C16 12 201121 Repeated 19.4 06 01 2012 TSH 6.63 FT4 2.08 K.A.06 01 201330.49 Repeated 22.33 18 02 2013 TSH: 15.95 FT4: 17.24
12
DISCUSSION CHT PREVALENCE CountryPrevalence Austria1:2927 Belarus1:9507 France1:2848 Germany1:2955 Hungary1:2207 Italy1:1748 Russia1:3102 Estonia1:13886 PKU PREVALENCE CountryPrevalence Austria1:7902 Bulgaria1:33266 France1:17769 Germany1:8553 Hungary1:12689 Italy1:3654 Russia1:7714 Slovenia1:3042 Prevalence 1:4.025 both for PKU and CHT NE Romania 1: 8478 for CHT, and 1: 15261 for PKU.(72% of newborns tested) J. Gerard Loebe, Neonatal screening in Europe; the situation in 2004, J Inherit Metab Dis Newborn screening for rare diseases in the north-east part of Romania: results of the newborn screening program 2009-2012 D. Anton-Paduraru1, M.Iliescu2
13
DISCUSSION PKU therapy: control of ingested Phe (maintaining a level of Phe between 2-6 mg/dl ) The diet(and level of Phe ingested) must be individualised The diet should be initiated in the first 20 days after birth The age at which the diet is initiated and the metabolic control level influence the outcome
14
DISCUSSION Special diet products for PKU Milk formula (Phe-free aa, plant and animal fats, carbohidrates, vitamins, fibres) Proteic substituent (Phe-free aa) Special diet products - aproteic Cooking powder(flour) - rice replacer Egg replacer - aproteic pasta Aproteic biscuits - aproteic cereals
15
DISCUSSION The treatment for CHT : Levothyroxine Starting dose :10-15 μg/kg Cognitive development is normalized if the treatment is administered early (first 2 weeks after birth)
16
DISCUSSION Why are there so many unconfirmed CHT cases? Some infants tested before day 3 after birth (early discharge ) Prematurity and ilnesses Why aren’t all newborns tested? - Some newborns die before being tested - Parents refuse - Omission by medical staff
17
DISCUSSION Cost-efficiency? Screening tests - free of charge for all newborn Cost (3 euro/test) - National Health Program for Neonatal Screening. 24151 nn tested x3Euro=72453 Euro/ 12= 6037.75 Euro/confirmed CHT/PKU case. Early treatment reduces disease complications reduced costs for short- and long-term care.
18
CONCLUSIONS Screening for PKU and HTC important health program early diagnosis of diseases with severe consequences. 97% of newborns were screened between 2010-2013. 6 cases of CHT and 6 cases of PKU were confirmed. There are problems in the further management of confirmed cases: some parents refuse to accept the diagnosis and treatment (PKU)/ they don’t comply to the treatment/ don’t attend mandatory controls
19
THANK YOU FOR YOUR ATTENTION!
Similar presentations
© 2025 SlidePlayer.com. Inc.
All rights reserved.