SummaryType 1 pseudohypoaldosteronism (PHA) is a rare heterogeneous group of disorders characterised by resistance to aldosterone action. There is resultant salt wasting in the neonatal period, with hyperkalaemia and metabolic acidosis. Only after results confirm isolated resistance to aldosterone can the diagnosis of type 1 PHA be confidently made. Type 1 PHA can be further classified into i) renal type 1 (autosomal dominant (AD)) and ii) multiple target organ defect/systemic type 1 (autosomal recessive (AR)). The aim of this case series was to characterise the mode of presentation, management and short-term clinical outcomes of patients with PHA type 1. Case notes of newly diagnosed infants presenting with PHA type 1 were reviewed over a 5-year time period. Seven patients were diagnosed with PHA type 1. Initial presentation ranged from 4 to 28 days of age. Six had weight loss as a presenting feature. All subjects had hyperkalaemia, hyponatraemia, with elevated renin and aldosterone levels. Five patients have renal PHA type 1 and two patients have systemic PHA type, of whom one has had genetic testing to confirm the AR gene mutation on the SCNN1A gene. Renal PHA type 1 responds well to salt supplementation, whereas management of patients with systemic PHA type 1 proves more difficult as they are likely to get frequent episodes of electrolyte imbalance requiring urgent correction.Learning points Patients with type 1 PHA are likely to present in the neonatal period with hyponatraemia, hyperkalaemia and metabolic acidosis and can be diagnosed by the significantly elevated plasma renin activity and aldosterone levels.The differential diagnosis of type 1 PHA includes adrenal disorders such as adrenal hypoplasia and congenital adrenal hyperplasia; thus, adrenal function including cortisol levels, 17-hydroxyprogesterone and a urinary steroid profile are required. Secondary (transient) causes of PHA may be due to urinary tract infections or renal anomalies; thus, urine culture and renal ultrasound scan are required respectively.A differentiation between renal and systemic PHA type 1 may be made based on sodium requirements, ease of management of electrolyte imbalance, sweat test results and genetic testing.Management of renal PHA type 1 is with sodium supplementation, and requirements often decrease with age.Systemic PHA type 1 requires aggressive and intensive fluid and electrolyte management. Securing an enteral feeding route and i.v. access are essential to facilitate ongoing therapy.In this area of the UK, the incidence of AD PHA and AR PHA was calculated to be 1:66 000 and 1:166 000 respectively.
Over the last decade, there has been an increase in reported cases of lipoatrophy as a complication of treatment with analogue insulin preparations. Lipoatrophy causes undesirable cosmetic appearances and may cause variable glycaemic control. We report a case series of four female patients from a tertiary paediatric diabetes unit presenting with lipoatrophy while on treatment with insulin aspart via a continuous subcutaneous insulin infusion (CSII) pump for the management of type 1 diabetes. We did not observe any cases of lipoatrophy in patients receiving multiple daily insulin injections. In examining the effect of lipoatrophy on glycaemic control, we found no detrimental effect of lipoatrophy on the patients’ glycated haemoglobin. Cases of lipoatrophy should be reported to drug manufacturers and through the appropriate national adverse drug reaction reporting system. This will facilitate observation of trend, and help monitor for associations, informing future research.
The Nova StatStrip performed well on statistical analysis compared with the Radiometer. Very few hypoglycaemic patients would be missed using the Nova StatStrip glucometer. We would recommend its use on our unit.
Over the last decade the internet has come to permeate every aspect of our lives. With huge leaps in accessibility of the internet via mobile personal devices such as smart cellular phones and tablets, individuals are connected to the internet virtually all the time. It is no surprise therefore that social media now dominates the lives of many people within society. The authors take a look at how social media is influencing diabetes with particular focus on weight perception, weight management and eating behaviours. The authors explore the concept of how the advertising of Size 0 models and photo-shopping of images which are easily available on line and via social media is causing an increase in the number of young people with distorted body images. This has led to an increased number of people resorting to sometimes drastic weight loss programmes. We focus on the bid for 'low-fat' consumption and highlight how this could actually be leading to an increased risk for developing diabetes or worsening the complications of diabetes. We also discuss the increase of eating disorder in diabetes related to this distorted body image.
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