Cholic Acids

BRIC o PFIC?

Gibellato E, Lauriola RS, D'Antiga L

2025/10 — pag. 257-259 — DOI

A 9-year-old boy of Moldovan origin presented to the Emergency Room with jaundice and pruritus persisting for two months. His medical history revealed recurrent, self-limiting episodes and a recent hospitalization in Moldova for hyperbilirubinemia tr...

Quando il fegato parla, ascolta (anche) l’intestino

Calia M, Lattuada M, Lebiu M

2022/4 — pag. 95-95 — DOI

The case of a 16-year-old adolescent with abdominal pain finally diagnosed with sclerosing cholangitis and inflammatory bowel disease is described. The possible involvement of the liver in IBD is discussed....

Che faccia di bronzo! L’atresia delle vie biliari

Morra L, Risso FM, Travan L

2022/4 — pag. 94-94 — DOI

The case of a newborn treated for haemolytic anaemia and hyperbilirubinaemia is described. An Extrahepatic Biliary Atresia (EBA) was eventually suspected after the appearance of a bronze discoloration of the skin....

Attenti al sole e pensa al fegato: due casi pediatrici di protoporfiria eritropoietica

S. Benvenuto, E. Leghissa, G. Gortani, S. Pastore

2020/26 — pag. 149-152 — DOI

The article reports two cases of a rare paediatric disease: erythropoietic protoporphyria (EPP) characterized by burning erythema and variable liver damage. EPP is the most common porphyria in children, caused by mutations in ferrochelatase (FECH) ge...

Non era una colangite infettiva

M. Mainetti, F. Marchetti

2020/5 — pag. 317-318

A picture of the onset of “hepatocolangitis” especially if with dilatation of the biliary tract must necessarily make one think of primary sclerosing cholangitis (PSC). The suspicion of PSC must always make one think of concomitant chronic inflammato...

Cos'è la sindrome di Jeune e quando pensarciDescrizione di un caso clinico

B. Vergara, C. Muratori, L. Mambelli, A. Zucchini, R. Iannace, G. Parmeggiani, A. Sensi, F. Marchetti

2018/2 — pag. 119-122

Jeune syndrome, also known as asphyxiating thoracic dystrophy, is a rare autosomal recessive skeletal dysplasia characterised by narrow chest, short skull and skeletal abnormalities, which include, among other things, a “trident” appearance of the...

Xantomatosi cerebro-tendinea

P. Pascolo

2016/5 — pag. 310-312

Calcolosi biliare: non solo per adulti...

G. Rossi, F. Cirillo, M. Sciveres, S. Riva, C. Ricotta, M. Spada, G. Maggiore

2015/8 — pag. 495-503

In recent years cholelithiasis has been on the rise among infants and children, partly because of improved diagnostic modalities, but also because of an increased awareness of emerging comorbidities, such as childhood obesity, and other associated ...

BRIC e PFIC 2 un continuum tra genotipo e fenotipo?

S. Ghione, M.E. Di Cicco, F. Moscuzza, G. Rossi, M. Segreto, G. Marsalli, G. Maggiore

2013/5

Un’ipertransaminasemia urso-dipendente

G. Ranucci, F. Cirillo, L. D’Antiga, M. Tufano, M. D’Ambrosi,G. Giordano, R. Iorio

2008/3 — pag. 193-194

We present a case of a 6 year-old boy with chronic hypertransaminasemia referred to our observation at the age of 17 months, with ALT levels of 2,147 IU/L without signs of cholestasis. Main causes of hypertransaminasemia were excluded and liver b...

Un caso di sindrome di Alagille

A. Borrelli, Mt. Carbone, A. Correra

2005/6 — pag. 398-398

Bassa statura isolata, celiachia e EBMEsofagite eosinofila: chi era costei?Croup (laringospasmo e laringite ipoglottica) e desametasone: tutto sbagliato sul New England?URSO e neonati pretermineLatte materno, oligosaccaridi non nutritivi e diarreaAnti-COX2: saremo capaci di non usarli mai? (senza eccezioni)Ancora un momento sulla celiachia (e il diabete)ECM: succede anche questo

2004/9 — pag. 543-544

Colangite autoimmune in rettocolite ulcerosa: trattamento con acido ursodesossicolico

S. Martelossi, G. Torre

1999/7 — pag. 403-404