Body composition in lupus nephritis patients

Background: The assessment of body fat distribution is an important evaluation in patients with lupus nephritis (LN), which does not practice routinely. The objectives of this study were to determine the body composition by using bioelectrical impedance analysis and to identify the effects of age, body mass index, disease activity, and corticosteroid therapy on body composition.Methods: This was a single-centered, cross-sectional, and observational study conducted at the nephrology unit, National Hospital Kandy, Sri Lanka. Seventy-nine patients with biopsy-proven LN have participated in the study.Results: There were 79 lupus nephritis patients enrolled in this study. The duration of LN ranged from 8 months to 32 years. The main non-renal clinical manifestations included skin lesions (59%), arthritis (54%), and oral ulcers (48%). The disease activity was low with a mean SLEDAI score of 1.01 (SD=2.3). The body fat (BF) percentage (p=0.002) and subcutaneous fat (SF) percentage (p<0.001) were significantly low in males compared to females. And, BF percentage was significantly low among patients with SLEDAI-2K 6 (p=0.03). Moreover, there were positive correlations found between SLE disease activity with the BMI (p=0.004), body fat percentage (p=0.001), and visceral fat percentage (p=0.001).Conclusions: Females are more prone to have a high mean value of body composition parameters than males in this study. There is a negative influence of the body composition parameters reported against the disease activity among LN patients in Sri Lanka.

Lysinuric protein intolerance presenting as pancytopenia and splenomegaly mimicking acute leukaemia: a case report

Abstract Background Lysinuric protein intolerance is a rare inherited metabolic disease due to autosomal recessive mutations of the SLC7A7 gene. The affected patients commonly present with protein-rich food intolerance, failure to thrive, hepatosplenomegaly, muscle hypotonia and lung involvement due to impaired intestinal absorption and excessive urinary excretion of dibasic amino acids. Presentation with splenomegaly and cytopenia without other features has not been reported. Here we report a Sri Lankan girl with lysinuric protein intolerance presenting with pancytopenia and splenomegaly mimicking acute leukaemia. Case presentation Two years and six months old Sri Lankan girl presented with persistent pancytopenia following a viral illness. She was asymptomatic without vomiting, diarrhoea, abdominal pain or irritability. Physical examination revealed pallor and isolated firm splenomegaly of 2 cm. Growth parameters and other system examinations were normal. Full blood count revealed anaemia, leukopenia and thrombocytopenia. The blood picture showed a mixture of hypochromic microcytic and normochromic normocytic red cells with occasional pencil cells and macrocytes. Bone marrow examination was normal except for occasional megaloblasts; however, serum vitamin B12 and red blood cell folate were normal. The metabolic screen showed a high anion gap compensated metabolic acidosis, high lactate and ketosis. Genetic mutation analysis using whole exome sequencing revealed compound heterozygous variants of the SLC7A7 gene, confirming the diagnosis of lysinuric protein intolerance. Conclusion We report a child with lysinuric protein intolerance presenting with pancytopenia and splenomegaly without other disease features. This case report adds to the heterogenic presentations of lysinuric protein intolerance, which is considered a multifaceted disease

Psychological morbidity among children with transfusion dependent β-thalassaemia and their parents in Sri Lanka.

BACKGROUND:Thalassaemia is a chronic disease which requires lifelong treatment in a majority. Despite recent advances in the medical care, minimal attempts are made to improve psychological health in these patients. In this study, we aim to describe the psychological morbidity in patients with transfusion dependent β-thalassaemia and their mothers in Sri Lanka. METHODS:This case control study was conducted in the three largest thalassaemia centres of Sri Lanka. All patients with transfusion dependent β-thalassaemia aged 4-18 years were recruited as cases whilst a randomly selected group of children without chronic diseases were recruited as controls. Psychological morbidity of children was assessed using the Strengths and Difficulties Questionnaire and depressive symptoms of mothers was assessed by the Centre for Epidemiological Studies Depression Scale. RESULTS:288 transfusion dependent β-thalassaemia patients and equal number of controls were recruited. Abnormal emotional, conduct, hyperactivity and peer relationship symptom scores were reported by 18%, 17%, 9% and 14% of patients with thalassaemia respectively. Prevalences of abnormal psychological symptom scores in all domains were significantly higher among patients compared to controls. Abnormal conduct symptoms were significantly more prevalent among patients with HbE β-thalassaemia and those with suboptimal pretransfusion haemoglobin levels, lower transfusion volumes, hypothyroidism and undernutrition. Short stature was associated with abnormal emotional and hyperactivity scores. Depressive symptoms were significantly higher among mothers of patients with thalassaemia. Higher depressive symptom scores in mothers were significantly associated with abnormal emotional, conduct and peer relationship symptom scores in children. CONCLUSIONS:A higher proportion of patients with transfusion dependent β-thalassaemia had abnormal psychological symptom scores. Abnormal conduct symptoms were more prevalent among patients with HbE β-thalassaemia, those who were inadequately transfused and having hypothyroidism and undernutrition. Mothers of the children with transfusion dependent β-thalassaemia had significantly higher depressive symptoms which were significantly associated with psychological symptoms among children