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Nghien ctru Y hpc Y Hoc TP. Ho Chi Minh * Tap 20 * So 1 * 2016

DAC DIEM DICH TE HOC, LAM SANG, CAN LAM SANG CUA SUY GIAP BAM SINH TAX BENH VIEN NHI DONG 2

IHtdi Quoc Dat*, Huynh Thi Vu Qtti/nft'

TOMTAT

Muc tieu: Khao sat dac diem dich te hoc, lam sdng, can 1dm sdng cdc trudng hap suy gidp bam dnh.

Phttang phdp n^ien cdu: hoi cdu, mo td hdng loat ca

Doi tuong nghien cdu: Tdi cd cdc benh nhi duac didn dodn suy gidp bam sinh (SCBS) vd dim tri noi trd tm benh din Nhi Dong 2 tie 1/2010 dm 1/2015.

Kei qud nghien cdu: SGBS thudng gap a giai nie chimi 71,43%o vd 48,98%} dugc phdt Men a tre < 3 thdng tudi. Trim chdng thudng gap nhai Id tdo bon (65,51%,), chdm lan (42,86%>), chdm phdt tri^n tam thrni van dong (37,76%), vdng da keo dm (37,76%). Da so tre co TSH> 100 pU/ml, FT3, FT4 giam nang vd diiiii mdu ^g sac dang bdo. Sau 7 ngdy dieu tri, hau. het FT4 trd vebinh thiecmg (93,75%).

Kei luamDa so'tre SGBS co the phdt hien dugc sam tneac 3 thdng tudi, thdm chi trang lua tuoi sa sidu Be phdt him benh sdm, chung ta can chu y cdc trieu chieng 1dm sdng ciia tre nhu tdo ban, chdm phdt trim tam thm van dgng, cham lan vd vdng da keo dm, dac biet Idd cdc trim chung nay phoi hap vdi nhau.

Td khoa: Suy gidp bam sinh.

ABSTRACT

THE FEATURES OF EPIDEMIOLOGY, O J N I G U AND PARACLINICAL MANIFESTATION OF CONGENTTAL HYPOTHYROIDISM AT THE CHE.DREN HOSPTTAL 2

Dat Dinh Quoc, Huynh Thi Vu Quynh * Y Hoc TP. Ho Chi Minh * Vol. 20 - No 1 - 2016:130 -134 Objective: To survey the features cf epidemiology, clinical and paraclinicd manifestation cf congenital hypothyroidism cases.

Method: Retrospective study, case series.

Subjective: All cf Congenital Hypothyroidism (CH) cases was diagnosed and treated in the Children Hospital 2 from 2010 January till 2015 January.

Result: The common type ofCH in women accounted for 71.43% and 48.98% was detected in infants i 3 months. The most common dinical symptoms are constipation (65.51%o), slow growth (42.86%), physical and mental retardation (37.76%), prolonged jaundice (37.76%). The majority has TSH> 100 pU/ml, severe decreased of FT3, FT4 and normochromic, normocytic anemia. After 7 days of treatment, most return to normd FT4 (93 75%).

Conclusion: Most children with CH can be ddeded early before 3 months cifage, even early neonatd age. To dded the disease early, we should note the child's clinical signs and symptoms such as txinstipation, mentd retardation, growth retardation and prolonged jaundice, espedally if these symptoms together.

Key word: Congenital Hypothyrmdism.

DAT V A N DE ^^^ thuong g i p o tre em, voi tan suat mac benh tren the gidi thay doi tu 1/3500 d m 1/4000 tre Suy gjap bam sinh (SGBS) la mpt benh noi

*Dai hpc Y Duoc TP Ho Chi Minti

Tdc gia liin lac: BS. Huynh Thi Vu QuynhjDT: 0989350127 Email: [email protected] 130 Chuyen De Siic Khoe Sinh S ^ - Ba M? Tre Em

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Y Hpc TP. H 6 Chi Minh * Tap 20 * S^ 1 * 2016 Nghien ciru Y hpc

m6i sinhf'-^'^s). Meu khong duoc ch&i doan som va dieu tri kjp thoi tre se tii vong hoac lim, dSh dpn suot doiPAio). SGBS cung la nguyen nMn gSy ch|m phat tri&i tri tue thuong gap 6 tre em va co the di^ ph6ng duocft^), Ngay nay, voi su phat tri&i kh6ng ngiing ciia y hoc, dac biet la mien dich va noi tiet, SGBS ngay cang duoc quan tam nhi&i hon vi nhung biai chiing nghiem trpng ciia b&ih va kha nang phong ngira dupe ciia no.

Vi vay, chung toi ftiuc hi&i de tai nay voi muc tieu khao sat dich te hpc, bieu h i ^ lam sang, can lam sang va dieu tri SGBS tren dm tugng nghien cnhi nham so sanh va do5 chioi tinh hinh chan doan va dieu trj SGBS nhimg nam gah day so vol truoc kia.

Muc tiSu nghien cihi:

Xac dinh ti le phan bo dac diem dich te hoc ciia SGBS t?i benh vien Nhi Dong H tir 1/2010- 1/2015.

Xac djnh ti le cac d|c diem lam sang.

Xac djnh ti le cac d|ic diem can lam sang.

Xac dinh ti le cac dac chem v^ diiu tri.

DdtlU'CJNG-FHU'ONGPHAPNGHIENCOtJ Thiet k€^ nghien cihi

Hoi ciiu, mo ta hang lo?t ca.

Doi tupng n g ^ ^ cmi

Ta't ca cac benh nhi dupe ch&i doan SGBS va dieu trj n6i tiu tai benh vien Nhi Dong n tii 1/2010 d « i 1/2015, dap iing day du tieu chi chpn b?nh va khOng thuoc tieu chi logi trir.

Ti@u chi chpn b^nh T^'t ca benh nhi >3 ngay tuoi.

EXrpc chan doan suy giap (TSH cao theo tuoi kem theo mpt hoac nhieu xet nghiem T3, T4, FI3, FT4 thap theo tuoi) hoac suy giap duoi lam sang (TSH cao theo tuoi kem cac xet nghiem T3, T4, FI3, FT4 binh thucmg).

Dupe chffli doan ]Sn dau.

Tieu chuan lo^i trijr

Suy giap do mac phai (fiiieii iode, viem

t u y ^ giap, cat bo tuy&i gjap, qua lieu thuoc

KET QUA NGHIEN COV

Trong thoi gian nghien ciiu tir thang 1/2010 d^h thang 1/2015 t?i benh vien Nhi Dong H CO 49 truang hop dupe chpn vao nghien cihi chung toi.

D | c diem dich te hpc cua SGBS:

Gidi

Nam va nil lah lupt chiem ti le 29,57% va 71,43%, ti le n u / n a m la 2,5/1.

Tudi

Tre duoi 3 thing tuoi chion ti le 48,98%, tir 4- 12 thang: 28,57% va tren 12 thang: 22,45%.Tu6i nhSp v i ^ tnuig binh trong nghien ciiu ciia chiing toi la 20,84 ± 40,38 thang tuoi.

Noi or ngu: tre dSi tir cac tinh thanh khac chiem ti I? 79,59%, tre 6 Thanh Pho Ho Chi Minh chiem file 20,41%.

Tiin can b$nh Iy tuyen gjap cua m^: trong nghien cuu ciia chung toi, co 3 truong hpp m? co tien can benh Iy tuyoi giap, chiKn 6,12%.

D^c diem Iam sang cvia SGBS L^ do nhap vien

hy do nh|[p vien tiiucmg gap nhat la tao bon (34,15%), trong do 40,62% gap cf ti"^ < 3 thang tuoi. Ke dSi la cham Ion (17,1%), vang da keo dai (19,51%) va cham phat trien tam van (9,76%).

Tri$u diiing lam sdng thucmg gdp

Taoboo Qipkiti Vhgii Cbjm llioat^i Hnmiem LnSto knidai pbzlbki nm

Bieu do 1: Cdc trim chieng 1dm sdng thudng gap

Nhi Khoa 131

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Nghien cau Y hpc Y Hoc TP. Ho Chi Minh * Tap 20 • So 1 2016

Kei qua cham tiem flieo bnnx dian chan dodn aia khoa Noi TiH VBVSKBMTE:

TSi^dllni 00 01 02 03 04 05 06 07 08 09 10

Tins* T i l l * 3 6,12 6 12.24 6 12,24 10 20,42 7 14^9 7 14^9 4 8,16 2 4,08 1 2,04 2 4,08 1 2,04 Dion trung binh theo nghien ciiu chung toi la 3,78 ± 239 diem Diem tu 5 tro len co 17 truong hpp, chion 34>69%, trong do, da so tre nam trong Iiia turn >3 thang, ti le 94,12%. Diem

<5 CO 32 truong hpp, chion 65,31%, trong do da so tre nSm trong lira tuoi < 3 ihang, ti le 59,38%.

Dac diem can lam sang Luang FT3, FT4, TSH trong mdiu

,jLu9nghoimo{ie TSH (IJU/ml)

<10O

>100 FT3(pg/rtiO

<1 1-2

>2 FT4(ng/dO

0,4J),7

<0,4

. TinsS 6 43 1 24 6 12 34

Til#%

12^4%

87,76%

3,22%

77,42%

19,36%

26,09%

73,91%

Thimmdu

Thieii mau chiem 60,87 %, trong do thieii mau dang s5c d3ng bao chion 75%, thieii mau hong cau to chion 14>29%, f h i ^ mau hong cau nho nhupc sac chion ti le 10,71%.

Sieu dm tuym gidp

41,94% tre co hinh anh t u y a i giap binh thuong, 32,26% tre co t u y a i giap teo nho, 6,45% tre khong co mo tuyCTi gjap tai vj tri binh tiiuong.

Cham truang Ikdnh xuong tren X-Quang Co 4 truang hpp dupe thuc hien X - Quang xuong ban tay trai, chion ti le 8,16%. Ca 4 truong

hpp deu ghi nhan cham truong tiianh xuong so voi tuoi hien lai cua b^nh nhi, ti le 100%.

Vedtiiitri

Lieii khcri dau: <S ^g/kg/ngay chion 53,06%,

> 8^g/kg/ngay chion 46,94%.

Sau 7 ngay dieu trj, hau h ^ Fr4 trd v^ binh tiiuong (93,75%), TSH vSn con tang hon Wnh thuong chion 87,^)%.

B A N L U A N T u o i n h ^ p vien

Liia tura nhap vien nhieu nha^ la < 3 thang tuoi chi^m 48,98%, dieu nay cho tiiay benh ^ dupe chah doan som hen so voi nhiing nghioi cihi truoc do, nhu nghien ctiu dia tac gia Le TM Ngpc Dung*^* va tac gia Malik*^ deu cho ket qua da so tr^ > 3 thang tuoit"^. Tuy nhien tura nh|p vioi > 12 thang van con cao, chion 22,45% va da so nhiing tie nay trieu chiing tiiuong ro rang va da (^ nhieii di chiing nang.

Trieu c h u n g lam sang cua cac truong hop suy giap b u n s i n h

BOTI trieu chiing lam sang tiiimng gap nhat la tao bon, cham Ion, vang da keo dai va cham phat trien tam v a n

Tao bon la trieu chiing lam sang fliuong gap hh^ chion 65,31%, ket qua nay tuong tu nghien cniu ciia tac gia Le Thi Ngpc D u i ^ (chion 94,44%)0o» va tac gja Unachak (chion 89,6%){^.

Tao bon cung la ly do thuor^ gap nhat dua tee vao benh vi%i, tuy nhioi day la trieu chiing khong dac hieu, xua't hioi trong nhieii benh ^ khac. Da so' tre dupe tAo ban dupe nlwp vi&i cr khoa tieu hoa truoc khi chuyoi len khoa npi tiet (20/32 tnrong hop). Nhiing tre tao bon tiiuong kem theo cac trieu chiing khac nhu: ch?m phat trioi tam v^n (50%), phii niem (43,75%), vang da keo dai (43,75%). Vi vay, c m chii y phat hioi SGBS 6 nhiing tre tao bon co kem tiieo trial chiing cham phat trioi ^ m van, phu niem va v^ng da keo dM.

ChSm phat triSrv ^ m vSn la trieu chiing nang, turn phat hien cang mupn thi trieu chiir^

C h u y e n D e Site Khoe S i n h SAn - Ba M ? T r e Em

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Y Hpc TP. H o Chi Minh * Tap 20 * So 1 * 2016 Nghien cuu Y hpc

nay cang ro ret, c6 nhiing trutmg hop tre 4 tucii ma chi noi dupe don am, 6 nhiing tre nay tinh trang thieu hut hormone giap da keo dai nhieu nam va nang ne, do do cho dii dieu tri hormone giap day dii tiu kha nang hoi phuc cting rat thap, tr^ khong the phat trioi binh thucmg dupe nhu nhiing tr^ khac.

Ket qud theo bang d i ^ chah doan cua VBVSKBMVTE

Dion trung binh khi chain Iheo bang diem VBVSKBMTE trong n g h i ^ ciiu chiing toi la 3,78 diem, thap hon so vdi tieu chuSn nghi ng6 SGBS khi >5 diem. Da so' tr^ trong nghien cihi chiing toi CO di&n <5 diem chiem 65,31%. Vi vay, n &

dua vao bang diem de chan doan tiu co the bo sot nhimg truor^ hpp SGBS deh som.

D | c diem cSn lam sang Thi^ mdu

Da so tr^ trong nghi&i cuu co thieii mau (60,87%) trcmg do chu yeii la thieu mau dang sac ding bao. Tinh trang thioi mau la do su thieii hut hormone giap lam giam su san xuat hong call o tiiy xucrng, miic dp tiiioa mau phu thuoc vao thoi gian dien tioi ciia benh va miic dp tac dpng ciia benh. Tinh trang nay se cM thien sau khi tre dupe di&i tri hormone giap thay the'.

Tre CO TSH >100 nU/ml chiem ti le 87,76%, trong do nhung tre nay da phan la suy gjap n|ng, thu6ng nhieu trieu chiing di k&m vk FT4, FI3 thucmg gjam thap.

K^T L U A N V A K I E N NGHI

Da so tre SGBS co the phat hien dupe som truoc 3 thang tuoi, thlim chi trcmg liia tuoi so sinh.

Daii hieu Iam sang pho bioi la tao bon, cham Ion, vang da keo dai va ch|m phat trioi tSm vgn.

Ly do nhap vien thuang gap nha't la tao bon. Tao bon co the gap trong nhieu b$nh ly khac nhau, tuy nhien khi tao bon di kem voi trieu chiing phii niem, vang da keo dai, cham phat tri&i tSm vSn n&n nghi ngo SGBS va can

lam cac xet nghiem TSG, hormone giap de chah doan hkhh.

Viec nghi ngo SGBS dua tiieo tieu chuan tong diem >5 tiieo bang diem ciia VBVSKBMTE CO tiie lam bo sot nhiing truong hpp deh som.

Muon chan doan benh som hon nen nghi ngo SGBS khi tre co trieu chiing tao bon, cham Ion, vang da keo dai va cham phat trien tam van, dlic biet khi cac trieu chiing nay phoi hop voi nhau.

TAI U E U THAM KHAO

1 American Academy of Pediatncs, I h e Section im Endocrmology and committee on C5enetics (2006). Update of Newborn Screenmg and Therapy for Congenital Hypothyroidism. Pediatrics, 117(5): 2290-2303.

2. Beardsali K, Ogilvy-Stuart AL (2004) Congenital Hypotiiyroidism. Current Pediatrics, 14(5) 422-429.

3 Daniel H P (1998). Disorders of the Thyroid gland. A e r y ' s Diseases of the Newborn, Tfli Edition, pp.1224-1233, W.B.

Saimder (Company.

4. Harris KB, Pass KA (2007). Increase in congenilal hypoth}TOidism in N e w York Stale and in the United States.

T*)lecular CSenetics and Metabolism, 91(3): 268-277.

5 Huang SA(2007). Hypothyroidism. Pediatric endocine. Volume 2,15fti Edition, pp.405-411.

6. I&ijima Y^ Ogawa E, Kalsushima Y, et al (2003). Accuracy of ultrasonc^raphy to e s t a b l i ^ the diagnosis and etiology of permanent piunaiy congenital hypothyroidism. Clinical Endocrinology, 59(3). 361-365.

7 LaFranchi SH (2011) Disorders of the ttiyroid gland. In: Robert M Kliegman, Bonita F. Stanton, el al. Nelson Textbook of Pediatric, 19th Edition, pp.1895-1903, ELsevier Saunders, Philadelphia.

8 Leger J, Olivien A, Donaldson M , e t a l (2014) European Soaely for Paediatric Endocrinology consensus guiddmes on screening, diagnosis, and management of congenital hypothyrDidisnLjClin&idocrinolMetab,99(l) 363-365 9 Lg I h j Ngpc Dung (2006). Suy G i i p Bam SinK t i : H b k \ g

Trpng Kim. Nhi khoa diiamg trinh dai hgct^I, Xua't ban l a i Ihu 4, tr.367-376, Nha xual ban Y hoc Thanh Pho I K Chi Mink 10. I ^ T h ) Ngpc Dung (2001). Gop ph&i nghiSn cuu suy giap b a m

sink Hpi nghj khoa hpc 1 ^ thuSt Dai Hpc Y Dac/c Thanh Pho Ho Chi M m h ISh 19, Nha xuat ban Y hpc Thanh Pho H o Chi Minh, lap 5{5)i 153-163.

i i . Mai The Trgch (2003) Suy giap. Npi tr^i hpc dai citong, Tai ban I m t h i i , tr-145-lSO, Nha xual ban Y hpc Thanh Pho H o Chi 12 Malik BA, Butt MA (2008). b delayed diagnosis of

hypofliyroidism still a problem in Faisalabad, Pakistan. Journal of Pakistan Medical Association, 58(10): 545-549 13. Phihp SZ, Sharon HT, Ftanos H et al (2009). Thyroid gland.

Current Diagnosis and Treatment: Pediatric, 19th Edition, pp921-92. The McGraw-Hill Compames.

i i Rossi WC, Atlter CR, (2005), Thyroid Disorders m Childiea Fediatnc Endocrinolc^y: The lequislcs in Pediatric, 1st Editioa pp.l7I-190, Mosby,

N h i Khoa 133

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Nghien cuu Y hgc Y Hpc TP. Ho Chi Minh * T$p 20 * So 1 * 2016

15. Unachak K, Dejkhamton F (2004). Primary congorital Ngay nhdn bai bdo: 12/11/2015

hypothyroidism: Clinical characlmstics and etiok^jcal study. J t / i n i c ; Med Assoc Thai, 87(6): 612-617. ^gdy phdn biin nhan xet bdi bdo: 19/11/2015

Ngay bdi bdo duoc dang:

134 Chuy€n f>i Sue Khoe Sinh San - Ba Me Ti* Em

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