Yenidoğan ve süt çocukluğunda kolestaz

Öz

Yenidoğan ve süt çocukluğu döneminde kolestatik karaciğer hastalıklarında buna neden olabilecek hastalığın ortaya koyulması önemlidir. Kolestaz, direkt bilirübinin total bilirübin miktarının %20’sinden fazla olmasıdır. Özellikle safra yolları atrezisi, tirozinemi, galaktozemi gibi hastalıklarda erken tanı, ileriye dönük kalıcı hasarların önlenmesi ve erken tedaviden fayda görülmesi açısından önemlidir. Dolayısı ile iki haftayı geçmiş sarılığı olan tüm yenidoğanlarda bilirübin, total, direkt, indirekt olarak bakılmalıdır; total bilürübinin %20’si direkt bilirübin ise karaciğer ile ilgili bozukluklar irdelenmelidir. Bu derlemede kolestatik karaciğer hastalıklarında nedenin ortaya koyulması açısından klinik ve laboratuvar olarak nelere dikkat edilmesi gerekir, bunu göstermeyi amaçladık.

Anahtar Kelimeler

• Direkt hiperbilirübinemi
• kolestaz
• safra yolları atrezis

Cholestasis in newborn and infancy period

Abstract

Dear Editor Isotretinoin is a synthetic vitamin A derivative which is used for treatment of nodulocystic and severe acne It is a teratogenic factor which can lead to intrauterine death and congenital anomalies in humans and the clinical picture it causes is named isotretinoin embryopathy 1 A three months old infant who was born from a mother who used isotretinoin during her first month of pregnancy without realising that she was pregnant is presented in this article to emphasize that this drug should definetely not be started in women who plan a pregnancy A three month old male presented to our clinic with a prediagnosis of multiple anomalies because of congenital cleft palate and low set and malformed ears When maternal history of the baby who was born from the first pregnancy of a 19 year old mother with a birth weight of 2400 g was deepened in terms of the infant rsquo;s malformations it was learned that the mother used isotretinoin at a dose of 0 5 mg kg day until the fourth week when she realized that she was pregnant because of widespread acnes on her face The mother discontinued the drug on the fourth week when she realized that she was pregnant Physical examination revealed the following findings: height 54 cm 3 10th percentile body weight 3800 g 10 25th percentile and head circumference 38 cm 25 50th percentile Ptosis was present in the left eyelid Picture 1 Low set malformed auricle micrognatia Picture 2 and cleft palate Picture 3 were observed A 2 6 systolic murmur was heard in the mesocardiac area Laboratory examinations revealed that complete blood count biochemical tests and urinalysis were within normal limits Patent foramen ovale was found on echocardiographic examination Hydrocephaly Dandy Walker malformation and cerebellar vermis hypoplasia Picture 4 were found on cranial magnetic resonance MR imaging The patient is still being followed up and treated in our clinic Isotretinoin embryopathy which is caused by isotretinoin is manifested by auricle anomalies cleft palate micrognatia cardiac defects aortic arcus malformations and central nervous system anomalies 1 2 Our patient had findings compatible with isotretinoin embryopathy including auricle anomalies ptosis cleft palate micrognatia patent foramen ovale hydrocephaly Dandy Walker malformation and cerebellar vermis hypoplasia In a study performed by Lammer et al 1 in 1985 21 cases exposed to isotretinoin were examined and craniofacial anomaly was found in 17 subjects cardiac anomaly was found in 12 subjects central nervous system anomalies were found in 18 subjects and thymus development anomalies were found in 7 subjects In vivo and in vitro studies have shown that isotretinoin affects the development of cranial neural crest cells 3 Pregnancy test should definetely be performed in women in whom isotretinoin treatment will be started and if the test is negative treatment should be only started after obtaining informed consent The treatment should be limited to one month and the drug should be discontinued at the end of one month However it was reported that it could lead to ear anomalies despite discontinuation of the drug one month before pregnancy 4 6 A dose of 0 5 1 5 mg kg day isotretinoin has been reported to be enough for teratogenicity 7 Our patient was exposed to 0 5 mg kg day isotretinoin In a case reported from our country ldquo;anotia rdquo; and Taussing Bing malformation were described 8 When the history and physical examination findings of the anomalies of our patient are considered it is clear that it is caused by isotretinoin Conclusively we believe that the best approach would be not to start drugs including isotretionin which have teratogenic effect in pregnant women or in women with child bearing potential Habip Almiş Yunus Emre Kum Yeşim Önal Cengiz Yakıncı İnönü University Medical Faculty Department of Pediatrics Malatya Turkey References 1 Lammer EJ Chen DT Hoar RM et al Retinoic acid embryopathy N Engl J Med 1985;313:837 41 2 Hersh JH Danhauer DE Hand ME Weisskopf B Retinoic acid embryopathy: timing of exposure and effects on fetal development JAMA 1985;254:909 ndash;10 3 Webster WS Johnston MC Lammer EJ Sulik KK Isotretinoin embryopathy and the cranial neural crest: an in vivo and in vitro study J Craniofac Genet Dev Biol 1986;6:211 ndash;22 4 Nulman I Berkovitch M Klein J et al Steady state pharmacokinetics of isotretinoin and its 4 oxo metabolite: implications for fetal safety J Clin Pharmacol 1998;38:926 ndash;30 5 Lee SM Kim HM Lee JS et al A case of suspected isotretinoin induced malformation in a baby of a mother who became pregnant one month after discontinuation of the drug Yonsei Med J 2009;50:445 ndash;7 6 Johnson BA Nunley JR Use of systemic agents in the treatment of acne vulgaris Am Fam Physician 2000;62:1823 30 7 Jones KL Smith rsquo;s recognizable pattern of human malformation 6th ed Philadelphia: Elsevier Saunders 2006: 660 1 8 Ceviz N Özkan B Eren S Ors R Olguntürk R A case of isotretinoin embryopathy with bilateral anotia and Taussig Bing malformation Turk J Pediatr 2000;42:239 41

Keywords

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References

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