Article Dans Une Revue The Journal of Pediatrics Année : 2022

A retrospective multicentric study on 34 patients with Niemann-Pick type C disease and early liver involvement in France.

A. Gardin
  • Fonction : Auteur
C. Mussini
  • Fonction : Auteur
B. Héron
  • Fonction : Auteur
M. Schiff
  • Fonction : Auteur
A. Brassier
  • Fonction : Auteur
P. Broué
  • Fonction : Auteur
C. Sevin
  • Fonction : Auteur
M. T. Vanier
  • Fonction : Auteur
D. Habes
  • Fonction : Auteur
E. Jacquemin
  • Fonction : Auteur
E. Gonzales
  • Fonction : Auteur

Résumé

Objective To describe the clinical features and course of liver involvement in a cohort of patients with Niemann-Pick type C disease (NP-C), a severe lysosomal storage disorder. Study design Patients with genetically confirmed NP-C (NPC1, n = 31; NPC2, n = 3) and liver involvement before age 6 months were retrospectively included. Clinical, laboratory test, and imaging data were collected until the last follow-up or death; available liver biopsy specimens were studied using anti-CD68 immunostaining. Results At initial evaluation (median age, 17 days of life), all patients had hepatomegaly, 33 had splenomegaly, and 30 had neonatal cholestasis. Portal hypertension and liver failure developed in 9 and 4 patients, respectively. Liver biopsy studies, performed in 16 patients, revealed significant fibrosis in all 16 and CD68+ storage cells in 15. Serum alpha-fetoprotein concentration measured in 21 patients was elevated in 17. Plasma oxysterol concentrations were increased in the 16 patients tested. Four patients died within 6 months of life, including 3 from liver involvement. In patients who survived beyond age 6 months (median follow-up, 6.1 years), cholestasis regressed in all, and portal hypertension regressed in all but 1; 25 patients developed neurologic involvement, which was fatal in 16 patients. Conclusions Liver involvement in NP-C consisted of transient neonatal cholestasis with hepatosplenomegaly, was associated with liver fibrosis, and was responsible for death in 9% of patients. The combination of liver anti-CD68 immunostaining, serum alpha-fetoprotein measurement, and studies of plasma biomarkers should facilitate early identification of NP-C.

Dates et versions

hal-04737779 , version 1 (15-10-2024)

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Citer

A. Gardin, C. Mussini, B. Héron, M. Schiff, A. Brassier, et al.. A retrospective multicentric study on 34 patients with Niemann-Pick type C disease and early liver involvement in France.. The Journal of Pediatrics, 2022, The Journal of Pediatrics, 254, pp.75-82.e4. ⟨10.1016/j.jpeds.2022.10.015⟩. ⟨hal-04737779⟩

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