Congenital cardiac anomalies
Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven in Succeeding in Paediatric Surgery Examinations, 2017
Protein-losing enteropathy is a recognised long-term complication of single ventricle patients who have been palliated with the Fontan procedure, whereby systemic venous blood passively drains into the pulmonary arteries, while pulmonary venous return is actively pumped by the systemic single ventricular mass into the systemic circulation. The aetiology of protein-losing enteropathy is unclear and the mortality is high, approaching 50% by 1 year following diagnosis. Various treatment modalities have been tried, all with little long-term success. Definitive treatment is heart transplantation.
A novel nonsense variation in the albumin gene (c.1309 A>T) causing analbuminaemia
Published in British Journal of Biomedical Science, 2021
G Caridi, A Farokhnia, F Lugani, AM de Luca, M Campagnoli, M Galliano, D Schröpfer, L Minchiotti
Other investigations were negative: hepatitis A/B/C,HIV, stool pancreatic elastase, a serologic panel screening against multiple intestinal parasites, and haemoglobinopathies (with normal HbF and HbA2). The activities of the erythrocyte enzymes glucose-6-phosphate dehydrogenase and pyruvate kinase were also normal. Gastroenterologists, using ultrasound of the abdomen and extensive specialist investigations, could not ascertain the cause of the low albumin level. A protein-losing enteropathy was excluded since the patient was asymptomatic. It was therefore also considered unnecessary to screen for an inflammatory bowel disease.
Abdominal lymphadenopathy in children with Gaucher disease: Relation to disease severity and glucosylsphingosine
Published in Pediatric Hematology and Oncology, 2022
Azza Abdel Gawad Tantawy, Amira Abdel Moneam Adly, Heba Mohamed Atif, Sherihane Said Madkour, Nouran Yousef Salah
ALN has been reported to be rare in children with GD with few case reports and series reported worldwide.5–12 Its development has been described with varying clinical manifestations, including intestinal obstruction and protein losing enteropathy. In most cases, it was described in patients on enzyme replacement therapy (ERT) with no role for the ERT in reversing the pathology.7,9,12 However, its prevalence among Gaucher population, pathophysiology, clinical implications and laboratory determinants are unknown, with no consensus on treatment strategies.
Identifying Novel Mutations in Iranian Patients with LPS-responsive Beige-like Anchor Protein (LRBA) Deficiency
Published in Immunological Investigations, 2021
Mehdi Ghaini, Mohammad Taghi Arzanian, Bibi Shahin Shamsian, Saeed Sadr, Pejman Rohani, Mohammad Keramatipour, Mehrnaz Mesdaghi, Shabnam Eskandarzadeh, Bernice Lo, Mahnaz Jamee, Zahra Chavoshzadeh
The whole-exome sequencing showed a novel homozygous deletion of 5 exons (exons 18–22, c.2166_2766del) in the LRBA gene, leading to a frameshift mutation and premature stop codon (p. V723SfsX25). The homozygous status of this variant was also confirmed by quantitative PCR (Q-PCR) (Figure S2). Her parents were heterozygous for the deletion. The patient received IVIG and Rituximab and was a candidate for hematopoietic stem cell transplantation (HSCT). Now, she is in relatively good and stable health condition; however, her protein-losing enteropathy persists.
Related Knowledge Centers
- Constrictive Pericarditis
- Gastrointestinal Tract
- Intestinal Epithelium
- Lymph
- Mucous Membrane
- Lymphatic System
- Capillary
- Heart Failure
- Blood Protein
- Lumen