BackgroundAccumulated damage is an important prognostic factor in systemic lupus erythematous. However, the pattern of disease damage and its risk factors have not been well studied in childhood-onset systemic lupus erythematosus (cSLE) in Asia. The objectives are to evaluate the pattern of damage and to identify the risk factors for accumulated damage in an Asian group of cSLE.MethodsA retrospective chart review was conducted on a group of 59 patients with cSLE. Patient demographics and clinical variables were first collected at diagnosis. Over the course of their disease, clinical variables considered as risk factors for damage were also collected. Damage was measured using the Systemic Lupus International Collaborating Clinics/ American College of Rheumatology Damage Index (SDI) for each patient at their last encounter. Based on their SDI scores, patients were then dichotomized to two groups: a group with presence of disease damage (SDI ≥1) and a group with absence of disease damage (SDI score = 0). Clinical variables including age at diagnosis, gender, ethnicity, disease duration, disease manifestations, laboratory values at diagnosis, disease activity at diagnosis and last encounter, major organ involvement, number of lupus flares, major infection, and intensity of immunosuppressive medications were compared between the two groups. Growth failure and estimated glomerular filtration rate (eGFR) were also analysed as secondary outcomes.ResultsAfter a median disease duration and follow up of 7.8 years, 39 patients (66.1%) had no disease damage while 20 patients (33.9%) had acquired disease damage. Disease damage most frequently occurred in the ocular (15.3%), neuropsychiatric (11.9%) and musculoskeletal (11.9%) domains. The most frequent forms of damage were cataracts (11.9%), and avascular necrosis (unilateral and bilateral combined 10.2%). After controlling for other variables, presence of neuropsychiatric manifestations remained the only statistically significant risk factor for damage. The rate of growth failure in our group of patients was 16%. Patients who experienced growth failure were significantly younger at disease diagnosis. The median age of diagnosis was 10 for those who experienced growth failure, whereas the median age of diagnosis was 13 for those who did not experience growth failure. Despite a high rate of renal involvement in the group (79.7%), renal damage was only seen in 3.2% of the patients. 91.5% of the studied group had normal eGFR of ≥90 ml/min/1.73m2 at their last follow up.ConclusionThis group of patients had a low rate of damage accrual, with one of the lowest rates in renal damage when compared to other cohorts reported. The presence of neuropsychiatric manifestations was identified as the most significant risk factor for disease damage, while the most frequent forms of damage were cataracts and avascular necrosis, which were both related to prolonged steroid use. Despite the limitations of this study, it highlights the need for larger prospective studies to understand the relatio...

Nephrogenic diabetes insipidus (NDI) is a rare disorder of the renal collecting tubules, characterized by an inability to concentrate urine due to an impaired response to arginine vasopressin (AVP), resulting in dilute urine and polyuria. Causes of NDI are heterogeneous and diagnosing congenital NDI (cNDI) in young infants is clinically challenging, as typical symptoms are often unappreciated or inconspicuous. Instead, young infants may present with non-specific signs such as vomiting, poor feeding, failure to thrive, unexplained fevers, irritability, constipation or diarrhea. We report a 37-day-old infant who presented with polyuria and severe hypernatremic dehydration that was unresponsive to vasopressin. The patient was treated with amiloride, indomethacin and hydrochlorothiazide. Genetic analysis revealed a novel contiguous deletion involving the entire AVPR2 gene and the last exon of the adjacent ARHGAP4 gene. A study of the family confirmed the carrier status in the mother. This case illustrates the importance of molecular testing in confirming the diagnosis in the index patient, as well as in identifying asymptomatic at-risk female carriers so that appropriate genetic counselling can be given for reproductive planning. All pediatric patients with suspected cNDI should undergo genetic analysis for a definitive diagnosis.

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The device was used within an individualised care plan to assess acute or routine review with a member of the team from home.3. Feedback on the usability, workflow and key outcomes was gathered at various stages of the project: a. A feedback survey completed by the healthcare professional after each consult.b. Data was collected via the TytoCare system for each consultation.c. End of pilot surveys were completed by staff and families. Results 48 consultations were undertaken using TytoCare during the pilot. We had healthcare professional feedback for 46 of them reporting the following impact: 100% of consultations felt to provide reassurance to families, 98% had a positive impact on the CYP. Two hospital assessments, 3 inpatient admissions, 13 face to face clinic appointments, 4 home visits, 23 face to face physiotherapy reviews and approximately 329 miles travelled were saved. Conclusions In this pilot the TytoCare device was found to be easy to use by professionals and carers and to be reliable and effective in providing safe and quality care for a select group of CYP at home. The pilot highlighted the impact technology can have in reducing the burden of chronic illness for families. It also demonstrated that technology could be used successfully to improve access to care for some of our most vulnerable families.