Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK

Nutrients

Sharon Evans¹  Catherine Ashmore¹  Ozlem Yilmaz¹  Anne Daly¹  Si Santra¹  Anita MacDonald¹  Alex Pinto¹  Inderdip Hunjan²  Camille Newby³  Germaine Pierre³  Joanna Gribben⁴  Roshni Vara⁴  Spyros Batzios⁵  Marjorie Dixon⁵  Sanjay Rajwal⁶  Elisabeth Jameson⁷  Diane Green⁸  Gisela Wilcox⁸  Mark Sharrard⁹  Lucy White⁹  Charlotte Dawson^1,10  Louise Robertson^1,10 

[1] Birmingham Women’s and Children’s Hospital, Birmingham B4 6NH, UK;Bradford Teaching Hospitals NHS Foundation Trust, Bradford BD9 6RJ, UK;Bristol Royal Hospital for Children, Bristol BS2 8BJ, UK;Evelina London Children’s Hospital, London SE1 7EH, UK;Great Ormond Street Hospital for children, NHS Foundation Trust, London WC1N 3JH, UK;Leeds Children’s Hospital, Leeds LS1 3EX, UK;Manchester University NHS Foundation Trust, Manchester M13 9WL, UK;Salford Royal NHS Foundation Trust, Manchester M6 8HD, UK;Sheffield Children’s NHS Foundation Trust, Sheffield S10 2TH, UK;University Hospitals Birmingham NHS Foundation Trust, Birmingham B15 2TH, UK;

关键词: citrin deficiency;    NICCD;    FTTDCD;    outcomes;    clinical status;    dietary management;   

DOI  :  10.3390/nu12113313

来源: DOAJ

【 摘 要 】

Background: Little is known about the optimal dietary treatment for citrin deficiency. Our aim is to describe the management of UK citrin deficiency patients. Methods: A longitudinal retrospective review was performed. Data were collected from medical records on presenting signs and symptoms, dietary management and clinical outcome. Results: data were collected on 32 patients from 21 families. 50% were females (16/32). Median age at diagnosis was 4 y (5 days–35 y) with 12 patients diagnosed in the neonatal period with neonatal intrahepatic cholestasis (NICCD), eight later in childhood (FTTDCD) and 12 by family screening based on index cases from five families. No patient had adult-onset type II citrullinemia. The patient age at the time of data collection was a median of 11 y (1–44 y). 91% (29/32) of patients had normal physical and neurological development, 47% (15/32) experienced recurrent unexplained abdominal pain and 9% (3/32) episodes of hypoglycaemia. Siblings had different phenotypes (5 families had > 1 affected patient). Most patients preferred high protein foods, limiting sugar-containing foods. Only 41% (13/32) were prescribed a low CHO, high protein, high fat diet (restriction varied) and two used medium chain triglyceride (MCT) supplements. No patient was prescribed drug therapy. Twenty-five per cent (8/32) of patients were underweight and 41% (13/32) had height <−1 z-scores. Conclusions: patients presented with various phenotypes, symptoms and suboptimal growth. Symptoms and biochemical markers improved with age, but height remained low in some. More research is necessary to assess the effectiveness of dietary approaches in improving clinical outcomes and symptoms in citrin deficiency.

【 授权许可】

Unknown