Posterske teme Poster topics - Biochemia Medica

P1-5 Prikaz slučaja
P1-5
Intrahepatična kolestaza povezana
s defi citom alfa-1-antitripsina u
novorođenčeta: prikaz slučaja
Žirović M 1 , Tešija-Kuna A 1 , Štefanović M 1 , Nikolac N 1 , Topić E 1 , Žaja-
Franulović O 2 , Jurčić Z 2
1 Klinički zavod za kemiju, KB Sestre milosrdnice, Zagreb, Hrvatska
2 Klinika za dječje bolesti, KB Sestre milosrdnice, Zagreb, Hrvatska
Novorođenče u dobi od 15 dana primljeno je u Gastroenterološki
odjel Klinike za pedijatriju zbog aholičnih stolica
i sumnje na kolestazu. Nije primijećeno žutilo kože, a
mo kraća je bila žute boje.
U novorođenčeta su načinjene biokemijske (ukupni i
konjugirani bilirubin, AST, ALT, GGT, ALP i 5’-NU, žučne
kiseline, alfa-1-antitripsin (AAT), alfa-fetoprotein, ukupni
kolesterol, LDL i HDL kolesterol, trigliceridi, CRP, imunoglobulini
IgG, IgA i IgM u serumu, slobodne masne kiseline
u majčinom mlijeku, kloridi u znoju), hematološke
(sedimentacija eritrocita, kompletna i diferencijalna krvna
slika) te koagulacijske pretrage (VK, VZ, PV i fi brinogen).
Od navedenih pretraga izmjerene su umjereno povišene
koncentracije ukupnog (83,1 µmol/L), konjugiranog (29,5
µmol/L) i nekonjugiranog (53,6 µmol/L) bilirubina, uz izrazito
povišenu koncentraciju žučnih kiselina (106,3 µmol/
L). Zbog porasta nekonjugiranog bilirubina učinjena je
genotipizacija na Gilbertov sindrom dječaka i njegovih
roditelja. Mutacija nije pronađena. Aktivnost GGT (171 U/
L) također je bila povišena, kao i koncentracije ukupnog
kolesterola (5,6 mmol/L), LDL kolesterola (3,4 mmol/L) te
triglicerida (3,0 mmol/L). U majčinom mlijeku jako je bila
povišena koncentracija slobodnih masnih kiselina. Uz navedene
pretrage izmjerena je snižena koncentracija AAT
od 0,46 g/L. Ostali laboratorijski nalazi bili su uredni. Ultrazvukom
abdomena nije utvrđeno postojanje urođenih
malformacija žučnog mjehura i vodova, a scintigrafi jom
jetre (HIDA) potvrđena je potpuna intrahepatiča kolestaza.
Zbog snižene koncentracije AAT učinjena je fenotipizacija
i genotipizacija kod dječaka i kod roditelja. Kod dječaka
je dokazan fenotip PiZZ, a kod roditelja PiMZ (otac) i PiSZ
(majka), pričem je M divlji, a S i Z su mutirani aleli. Rezultati
su potvrđeni i genotipizacijom. Postavljena je dijagnoza
potpune intrahepatične kolestaze povezane s defi citom
AAT. U dobi od 4 mjeseca dječak je ponovno primljen na
odjel, jer unatoč terapiji (Ursofalk, Phenobarbiton, Plivit
D3) nije došlo do regresije znakova kolestaze, a bilježi se i
daljnji porast koncentracije bilirubina (ukupni 94,6; konjugirani
39,3; nekonjugirani 55,3 µmol/L) te porast aktivnos-
Biochemia Medica 2006;16(Suppl 1):S1–S268
S100
P1-5
Intrahepatic cholestasis associated with
alpha-1-antitrypsin defi ciency in newborn:
case report
Žirović M 1 , Tešija-Kuna A 1 , Štefanović M 1 , Nikolac N 1 , Topić E 1 ,
Žaja-Franulović O 2 , Jurčić Z 2
Case report
1 University Department of Chemistry, Sestre milosrdnice University
Hospital, Zagreb, Croatia
2 University Department of Pediatrics, Sestre milosrdnice University
Hospital, Zagreb, Croatia
A 15-day-old male newborn with suspected cholestasis
due to alpha-1-antitrypsin (AAT) defi ciency was admitted
to gastroenterology ward of the Pediatrics Department.
Biochemistry tests (total and direct bilirubin, AST, ALT,
GGT, ALP, 5’-NU, bile acids, ATT, alpha-fetoprotein, total
cholesterol, LDL and HDL cholesterol, triglycerides, CRP,
IgG, IgA and IgM immunoglobulins in serum, free fatty
acids in breast milk, chlorides in sweat), hematology tests
(erythrocyte sedimentation rate, diff erential blood count)
and coagulation tests (bleeding time, clotting time, PT
and fi brinogen) were determined. Increased values were
found for total, direct and indirect bilirubin (83.1, 29.5 and
53.6 µmol/L, respectively) and bile acids (106.3 µmol/L).
Due to the increased concentration of indirect bilirubin,
genotyping for Gilbert’s syndrome was performed in
the infant and parents, with no mutation detected. The
activity of GGT (171 U/L) and concentrations of total
cholesterol (5.6 mmol/L), LDL cholesterol (3.4 mmol/L)
and triglycerides (3.0 mmol/L) were also increased. Free
fatty acid concentration in breast milk was extremely
increased. In addition, AAT concentration was decreased
(0.46 g/L). Other laboratory tests were normal. Abdominal
ultrasound excluded existence of inborn malformation
of the gallbladder and bile ducts but hepatobiliary
scintigraphy (HIDA) identifi ed complete intrahepatic
cholestasis. Due to decreased AAT concentration, AAT
phenotype and genotype testing of the infant and his
parents was performed to reveal the boy to have PiZZ,
the mother PiSZ and the father PiMZ phenotype (M being
wild type, S and Z mutated alleles). Results were confi
rmed by genotyping. Taking all these into account, the
diagnosis of intrahepatic cholestasis associated with AAT
defi ciency was made. The infant was readmitted to the
gastroenterology ward at the age of 4 months. Signs of
cholestasis did not disappear in spite of therapy (ursodiol,
phenobarbitone, vitamins E and D3). The concentrations
of total, direct and indirect bilirubin (94.6, 39.3 and 55.3
µmol/L, respectively), bile acids (151 µmol/L) and enzyme
activities (AST 153, ALT 159, GGT 1790, ALP 1010 and 5’-NU