H NG HUYT CNG INSULIN KO DI TR NH NHI (PHHI)

Nhn mt trng hp him gp: Trn B Thoi - Khoa Ni C - Bnh vin Nng PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is the most common cause of reccurent or persistent hypoglycemia in early childhood. In PHHI the secretion of insulin is unregulated, resulting in profound hypoglycemia. There are two histopathologic forms of PHHI: focal adenomatons islet-cell hyperplasia (nesidioblastosis) and diffuse abnormalities of beta-cell hyperfunction, some insulinomas share similarities in their molecular background with focal PHHI. Recently there is an atypical form of PHHI, characterized by a mosaicism of islets. PHHI can occur as a result of mutation in the subunits that form the ATP-sensitive potassium channel (K+ATP) in pancreatic beta-cells wich play a major role in modulating insulin secretion from the beta-cells. Mutations have been shown in the genes for these subunits, namely for the plasma membrane sulfonylurea receptor (SUR1), ABCC8, and its associated inwardly rectifying potassium channel (KIR 6.2) KCNJ11. The treatment of PHHI has been controrsial. Convertionally, pancreatectomy subtotal or near total (97%) has often been recommended to control hypoglycemia. However, PHHI can be managed successfully by intensive medical treatment to avoid pancreatetomy. Two drugs of choice are diazoxide and calcium channel blockers. In PHHI the early diagnosis and the succeful hypoglycemic control are very nesessary to prevent neurologic sequelae. We report one case of PHHI diagnosed and treated at PICU of Danang general hospital in 2004. 1. M u: H ng huyt ko di nh nhi (PHHI) l nguyn nhn hng u gy h ng huyt ko di ti din tr nh nhi. Trong PHHI s ch tit insulin khng c iu ha, hu qu l gy h ng huyt nng. Gii phu bnh l m hc cho thy c hai dng PHHI l qu sn u ti ch cc t bo o Langerhans (Nesidioblastosis) v cng chc nng t bo b ta lan ta. Gn y ngi ta thy c dng PHHI khng in hnh c trng bi o Langerhans dng khm. V genetics ngi ta thy c nhng t bin cc tiu n v ca knh K+ATP sensitive trong t bo b ta, knh ny gi vai tr quan trng trong vic iu phi s ch tit insulin. S t bin xy ra cc tiu n v receptor sulfonylurea mng bo tng ABCC8 (SUR1) v KCNJ11C (KIR 6.2) iu tr PHHI hin nay cn bn ci. Nhiu tc gi thin v hng ct ty bn phn hoc gn ton phn. Mt s tc gi dng thuc nh diazoxide v c ch calcium c ch thuc l tc dng qua ABCC8 receptor v knh KCNJ11. Chn on sm v kim sot tt h ng huyt s gip ngn nga di chng thn kinh lu di v sau cho tr. 2. Trng hp lm sng: Bnh nhi gi k 20 ngy tui, s lu tr 2655C, l do nhp vin: Bnh vin nhi hu ngh Vit Nam Hn Quc chuyn vi chn on: H ng mu, Nhim trng s sinh. Bnh s: Bnh nhi con so, sinh thng, thng cn nng lc sinh 3.300 gam. APGAR lc sinh 8 khng c d tt bn ngoi, sau sinh tr hay l mt, tm nh mi, khng st vo vin c lm xt nghim xc nh h ng huyt c dng ng glucose u trng truyn TM, conticoid v khng sinh 19 ngy. Tnh trng h ng huyt c ti din, ko di nn c chuyn vin.

Tin s: lc mang thai m khng mc bnh g. B m v gia nh khng c ai mc i tho ng, khng c bnh g khc. Tnh trng lc vo vin: tnh to, khc to, da hng, nhit 37oC, chiu cao 50cm, vng ngc 30cm, vng u 33cm, cn nng 3.600g. Tim u, TTT 2/6 nghe y tim. Th nhanh nhp 60l/pht, mi hng phi khng rles g u hai bn. Bng mm, khng nn, phn vng, gan lnh khng ln. Tiu trong. Thp khng phng, khng co git, khng du thn kinh khu tr. Khng pht hin bnh l c quan khc. Khng d tt bn ngoi. Cc xt nghim lm: ng mu: lun lun rt thp, nhng ngy u vo vin c lc ch l vt v sau khi dng ng glucose u trng truyn TM sng hm sau kim tra ng mu Go cng ch 5mmol/lt. Nng insulin mu dao ng t 0,1mUI/l n 12,36 mUI/lt (s trung bnh ngi bnh thng theo k thut ca chng ti l 2,6 20mUI/lt). T l insulin/ng mu lun rt cao t 3,9 n rt ln (ng mu vt). Siu m bng nhiu ln khng thy bt thng v kch thc v mt echo ca tuyn ty. CT scan bng khng thy bt thng ca ty.

Siu m tim cn ng ng mch, shunt yu c kh nng t ng. Cc xt nghim khc nh CTM, in gii , chc nng gan, chc nng thn, T3, T4, TSH, nc tiu ton phn, siu m qua thp, CT scan s no, chp phi v.v. u bnh thng. Bnh c chn on: Bnh chnh h ng huyt ko di s sinh. Bnh km: Cn ng ng mch shunt yu kh nng t ng. c iu tr: Glucose 10% truyn TM 70ml/kg/ngy. Predrisone 1/mg/kg/ngy. Cho b sa m, sa b sung. Bnh c iu tr ti PICU trong 70 ngy v c hi chn khoa, vin nhiu ln cng nh hi vi vin Nhi H Ni. Cui cng c ngh ra vin Nhi phu thut ct lch. TI LIU THAM KHO 1. Phan Vn Duyt, Nguyn c Nht, Mai Th Trch (1987) "nh lng phng x min dch hc insulin ngi Vit Nam bnh thng v mc bnh i tho ng". K yu chng trnh y hc ht nhn 1981-1985, Nxb Y hc 104_8. 2. L Th Hng (2003) "H ng huyt s sinh". Tp ch Y hc thc hnh s 438, B Y t xut bn 44_8. 3. L Th Hng Hu (2001) "Nghin cu tnh trng gim glucoze mu tr s sinh cn nng thp". Lun vn Thc s. 4. Nguyn Vng (2000) "U ty ni tit - nghin cu min dch - m bnh hc" HNKH "Ni tit v cc ri lon chuyn ha", Nxb Y hc 526_8.4.

5. Sperling MA, Menon RK (2004), Differential diagnosis and management of neonatal hypoglycemia Pediatr Clin North Am, 2004 Jun;51(3):703_23. 6. Tanaka Y, Asakawa T, Asagiri K, Hikida S, Mizote H (2004), Nesidioblastosis treated successfully by 85% pancreatectomy, Karume Med J. 2004;51(1):99_103.