February Briefs

JM Powers et al. J Pediatr 2017; 180: 212-6. This retrospective study details a protocol for using intravenous ferric carboxymaltose (FCM) (Injectafer) in children.  This product has become available for adults in U.S. since June 2013; it had been available in Europe since 2009. In this retrospective study, 72 pediatric patients received FCM for iron deficiency anemia (off-label); there was a good safety profile and a good response with hemoglobin increasing from 9.1 to 12.3 (4-12 weeks post infusion).  FCM is a relatively costly IV iron formulation, but can be given over 15 minutes.

L Peyrin-Biroulet et al. Clin Gastroenterol Hepatol 2017; 15: 25-36.  This systemic review with more than 2800 patients showed that TNF antagonists were effective for extraintestinal manifestations of inflammatory bowel disease, including cutaneous disorders (eg.. pyoderma gangrenosum, erythema nodosum), hematologic problems (eg anemia), ocular disorders, and rheumatologic symptoms( eg. arthralgias/arthritis).

AE Mikolajczyk et alClin Gastroenterol Hepatol 2017; 15: 17-24. Useful review of the GI/Liver manifestations of autosomal-dominant polycystic kidney disease. “There is not a role for therapy [for the liver] in asymptomatic patients.” Other problems reviewed included pancreatic cysts, hernias, and diverticular disease. Related posts:

T Rajalahti et al. JPGN 2017; 64: e1-6.  Among 455 patients <18 with Celiac disease, anemia was noted in 18%. This resolved in 92% after one year of a gluten-free diet.  Anemia is associated with more severe histological and serological presentation. Related posts:

FL Cameron et al. JPGN 2017; 64: 47-55. This retrospective review of 93 children treated with infliximab and 28 children with adalimumab provides data on growth after anti-TNF therapy.  This study shows that anti-TNF therapy is more likely to be associated with growth improvement when used at earlier stages of puberty.

Related blog posts:

Chattahoochee River

Chattahoochee River

Hepatic ciliopathies

As our understanding of pathophysiology improves, frequently this results in reclassification of diseases.  Perhaps the best example in pediatric hepatology is gestational alloimune liver disease/congenital alloimmune hepatitis, formerly called neonatal hemochromatosis  (see previous post).  Hepatic ciliopathies are less commonly discussed and thus far have not resulted in abandoning previous nomenclature. These hepatic ciliopathies are related to fibrocystic disease proteins which localize to the primary cilia.  Ductal plate malformation is the main pathology that underlies the liver disease in ciliopathies.  The characteristics of one of these disorders, congenital hepatic fibrosis (CHF) in autosomal dominant polycystic kidney diseae (PKD) involving 19 patients is described in this month’s JPGN (JPGN 2012: 54: 83-89).  Portal hypertension was the main manifestation.  “Hepatocellular function was preserved and liver enzymes were largely normal.”  In patients with AD-PKD-CHF, this was  due to PKD1 mutations with probable contributions from modifier genes.  One interesting finding was that in the identified families, the parents who were affected by polycystic kidney disease did not have CHF.

Although this study demonstrates that CHF and portal hypertension can occur with AD-PKD, CHF and portal hypertension are a characteristic finding with AR-PKD.  With AD-PKD, the liver cysts originate from biliary microhamartomas (von Meyenburg complexes) and are not in continuity with the biliary tree.  In contrast, patients with AR-PKD have cystic dilatations of the biliary system; this combination is called Caroli syndrome.  Due to these differences, unlike AR-PKD, AD-PKD does not typically result in portal hypertension.

Additional references on congenital hepatic fibrosis:

  • -Hepatology 2010; 52: 2223. Review. Medical/Surgical & Tx options.
  • -Am J Med Genet C Semin Med Genet 2009; 151C: 296-406.  Liver disease and kidney disease in ciliopathies.
  • -NEJM 2008; 359: 1477.  Review of autosomal dominant polycystic kidney disease.  ~80% develop liver cysts.
  • -NEJM 2007; 356: 1560. Nice pic of resected liver with polycystic liver disease in 51 year old.
  • -J Pediatr 2006; 149: 159. Review and NIH protocol for enrolling patients. Clinical GI issues: recurrent cholangitis, portal htn, cholelithiasis, and cholangiocarcinoma.
  • -Pediatr Transplantation 2005; 9: 634-9.
  • -Hepatology 2004; 40: 774-82.
  • -Surg Endosc 2005; 19: 130-32.
  • -Gastorenterol Clin N Am; 2003; 32: 857-75. “Heritable disorders of the bile ducts”