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Nealkoholna maščobna spremenjenost jeter pri otrocih je kronična bolezen jeter, ki nastane zaradi kopičenja maščob v jetrih. Tesno je povezana z debelostjo in nekaterimi drugimi dejavniki tveganja. Njena pogostost se v razvitem svetu v zadnjih letih strmo povečuje, predvsem na račun naraščajočega števila otrok z debelostjo. Večinoma ne povzroča težav in jo naključno odkrijemo v sklopu diagnosticiranja drugih bolezni ali ob sistematskih pregledih. Če bolezen spremljajo tudi znaki vnetja jeter, govorimo o nealkoholnem steatohepatitisu, ki lahko vodi v cirozo jeter in končno jetrno odpoved. Pri začetnem diagnosticiranju uporabljamo neinvazivne metode (krvne preiskave, ultrazvočno preiskavo), dokončno diagnozo pa v nekaterih primerih postavimo z jetrno biopsijo. Ob tem moramo izključiti druge bolezni jeter in druge vzroke zamaščenosti jeter. O načinu in pogo-stosti sledenja otrok z nealkoholno maščobno spremenjenostjo jeter se odločamo glede na prisotnost dejavnikov tveganja in stopnjo jetrnih sprememb. Pri zdravljenju je najbolj pomembna sprememba življenjskega sloga z zmanjšanjem telesne mase in dejavnikov tveganja ter povečanjem telesne dejavnosti. Zdravljenja z zdravili ali s prehranskimi dodatki zaradi pomanjkanja dokazov zaenkrat ne priporočamo. Praktični pristop k otroku z maščobno spremenjenimi jetri prikazujemo s predstavitvijo kliničnega primera.

Paediatric non-alcoholic fatty liver disease is a chronic liver disease resulting from excessive fat accumulation in the liver. It is closely associated with obesity and some other risk factors. In the last few years, its prevalence in the developed world has been increasing rapidly alongside paediatric obesity. It is generally asymptomatic and is accidentally dis-covered when diagnosing other diseases or during systematic examinations. The additional presence of inflammatory signs is characteristic of non-alcoholic steatohepatitis, which may progress to cirrhosis and end-stage liver disease. The initial diagnosis is based on non-invasive methods (blood tests, ultrasound), but in some cases, the definite diagnosis is based on liver biopsy. Other causes of liver disease and hepatic steatosis must be excluded. The frequency and methods of follow-up are dependent on the presence of risk factors and the severity of the liver changes. First-line treatment is based on lifestyle changes with weight reduction, minimizing risk factors and increasing physical activity. Medical treatment or nutritional supplements are currently not prescribed due to insufficient evidence. A practical approach to a child with fatty liver disease is illustrated by a case presentation.

Abstract Familial Progressive Hyper‐ and Hypopigmentation is a pigmentary disorder characterized by a mix of hypo‐ and hyperpigmented lesions, café‐au‐lait spots and hypopigmented ash‐leaf macules. The disorder was previously linked to KITLG and various mutations have been reported to segregate in different families. Furthermore, association between KITLG mutations and malignancies was also suggested. Exome and SANGER sequencing were performed for identification of KITLG mutations. Functional in silico analyses were additionally performed to assess the findings. We identified a de novo mutation in exon 4 of KITLG gene causing NM_000899.4:c.[329A>T] (chr12:88912508A>T) leading to NP_000890.1:p.(Asp110Val) substitution in the 3rd alpha helix. It was predicted as pathogenic, located in a conserved region and causing an increase in hydrophobicity in the KITLG protein. Our findings clearly confirm an additional hot spot of KITLG mutations in the 3rd alpha helix, which very likely increases the risk of malignancies. To our knowledge the present study provides the strongest evidence of association of the KITLG mutation with both Familial Progressive Hyper‐ and Hypopigmentation and malignancy due to its’ location on somatic cancer mutation locus. Additionally we also address difficulties with classification of the unique phenotype and propose a subtype within broader diagnosis.