Acute leg pain and weakness in pregnancy: A new diagnosis of myotonic dystrophy.

We present a unique case of a 44-year-old woman who presented at 29 weeks' gestation with proximal limb pain and elevated creatine kinase. This occurred in the background of premature cataracts, atrial fibrillation and abnormal liver function. Clinical, pathological and neurodiagnostic findings supported a diagnosis of myotonic dystrophy, confirmed by genetic testing which revealed dystrophia myotonica protein kinase gene expansion. Muscle biopsy found both recent necrotising and chronic myopathic processes. Following delivery, the mother's myalgia resolved and creatine kinase quickly declined. The fetus was diagnosed with congenital myotonic dystrophy. We review the impact of myotonic dystrophy on pregnancy and discuss potential explanations for this patient's clinical course. This case emphasises the importance of considering myotonic dystrophy as a differential diagnosis in the right clinical context and the need for pre-pregnancy assessment and genetic counselling in women with known myotonic dystrophy.

Equity and diversity in the nephrology workforce in Australia and New Zealand.

BACKGROUND: Despite diversity initiatives, inequities persist in medicine with negative implications for the workforce and patients. Little is known about workplace inequity in nephrology. AIM: To describe perceptions and experiences of bias by health professionals in the Australian and New Zealand Society of Nephrology (ANZSN), focussing on gender and race. METHODS: A web-based survey of ANZSN members recorded degree of perceived inequity on a Likert scale, ranging from 1 (none) to 5 (complete). Groups were compared using Mann-Whitney U-test and logistic regression. Comments were synthesised using qualitative methods to explore themes of inequity and pathways to an inclusive future. RESULTS: Of the 620 members of the ANZSN, there were 134 (22%) respondents, of whom 57% were women and 67% were White. The majority (88%) perceived inequities in the workforce. Perceived drivers of inequity were gender (84/113; 75%), carer responsibilities (74/113; 65%) and race (64/113; 56%). Half (74/131) had personally experienced inequity, based on gender in 70% (52/74) and race in 39% (29/75) with perceived discrimination coming from doctors, patients, academics and health administrators. White males were least likely (odds ratio 0.39; 95% confidence interval 0.18-0.90) to experience inequity. Dominant themes from qualitative analysis indicated that the major impacts of inequity were limited opportunities for advancement and lack of formal assistance for those experiencing inequities. Proposed solutions to reduce inequity included normalising the discourse on inequity at an organisational level, with policy changes to ensure diverse representation on committees and in executive leadership positions. CONCLUSIONS: Inequity, particularly driven by gender and race, is common for nephrology health professionals in Australia and New Zealand and impacts career progression.

Features, risk factors, and outcomes of older internal medicine patients triggering a medical emergency team call.

BACKGROUND: Information about the epidemiology of older Internal Medicine patients receiving medical emergency team (MET) calls is limited. We assessed the prevalence, characteristics, risk factors, and outcomes of this vulnerable group. METHODS: Internal Medicine patients aged >75 years who were admitted via the Emergency Department to a tertiary hospital between January 2015 to December 2018 and who activated a MET call were compared to patients without MET call activation during the same time period. Outcome measures included management post-MET call, Intensive Care Unit (ICU) admission rates, discharge disposition, length of hospital stays (LOS), and in-patient mortality. RESULTS: There were 10,803 Internal Medical admissions involving 10,423 patients; median age 85 (IQR 81-89) years. Of these, 995 (10%) patients received at least one MET call. MET call patients had greater physiological instability in the Emergency Department and higher median Charlson comorbidity index values (2, IQR 1-3 vs. 1, IQR 0-2; p < .0001) than non-MET call patients. Overall, 10% of MET call patients were admitted to ICU. MET patients had a longer median length of stay (9 [IQR 5-14] vs. 4 days [IQR 2-7]; p < .001) and higher in-hospital mortality (29% vs. 7%; p < .001). However, mortality of MET call patients without treatment limitations was 48/357 (13%). CONCLUSION: One in ten Internal Medicine patients aged >75 years and admitted via ED had a MET call. Physiological instability in ED and comorbidities were key risk factors. Mortality in MET patients approached 30%. These data can help predict at-risk patients for improving goals of care and pre-MET interventions.

A rare cause of hypertension in pregnancy: Phaeochromocytoma.

A 26-year-old primigravida at 35 weeks' gestation was transferred to our institution from a regional hospital for management of presumed preeclampsia. Due to the labile nature of her hypertension, further investigation was undertaken which revealed a right-sided phaeochromocytoma. Alpha blockade was commenced, and an uncomplicated elective caesarean delivery was performed at 38 weeks' gestation under spinal anaesthetic. The patient underwent an elective right laparoscopic adrenalectomy six weeks post-partum. This case highlights the importance of investigating young women for secondary causes of hypertension to avoid mislabelling as essential or gestational hypertension.

Mineral adaptations following kidney transplantation.

Klotho is predominantly expressed in the kidney and reported to have antioxidant and antifibrotic properties. Soluble Klotho (sKl), the circulating protein cleaved from membrane-bound Klotho, is reduced significantly with kidney disease and inversely associated with mortality. sKl has not been thoroughly evaluated prospectively after kidney transplantation. Incident kidney transplant recipients (KTRs) were prospectively evaluated pretransplantation, 1, 12 and 52 weeks post-transplantation. Basic biochemistry, sKl and intact FGF23 were measured. Within-subject comparisons were evaluated using repeat-measure anova or Friedman's analysis. Effects of immunosuppression and biochemical parameters on sKl and FGF-23 over time were analysed using mixed-effects modelling. Median serum creatinine (sCr) at 1 week was 116 (92-142) µmol/l, and at 52 weeks, all 29 KTRs had a functioning graft with median sCr of 111 (97-131) µmol/l. Compared with baseline, sKl was increased at 52 weeks following an initial decline at 1 week (P < 0.005 and P < 0.01, respectively), while FGF23 was considerably reduced at 52 weeks (P < 0.001). In a mixed-effects model, an increased sKl was not associated with reduction in immunosuppression or evaluated biochemical parameters. Modest increase in sKl is observed one-year postkidney transplantation with excellent early graft function suggesting factors beyond renal capacity may influence circulating sKl. FGF23 normalization was observed. Longer term evaluation in transplantation, specifically addressing the effects of immunosuppression, is required to understand the pathophysiology of the sKl/FGF23 axis and potential for modification.

Antiphospholipid syndrome in renal transplantation.

Antiphospholipid syndrome (APS) may occur in isolation or in association with systemic lupus erythematosus (SLE), with the potential to cause renal failure via several distinct pathologies. Renal transplantation in the presence of APS carries a risk of early graft loss from arterial or venous thrombosis, or thrombotic microangiopathy (TMA). Whilst perioperative anticoagulation reduces the risk of large vessel thrombosis, it may result in significant haemorrhage, and its efficacy in preventing post-transplant TMA is uncertain. Here, we report a patient with end-stage kidney disease (ESKD) due to lupus nephritis and APS, in whom allograft TMA developed soon after transplantation despite partial anticoagulation. TMA resolved with plasma exchange-based therapy albeit with some irreversible graft damage and renal impairment. We discuss the differential diagnosis of post-transplant TMA, and current treatment options.

Rapidly progressive glomerulonephritis complicating primary AL amyloidosis and multiple myeloma.

Crescentic glomerulonephritis is a rare complication of AA amyloidosis. There are no clinical case reports of this complicating AL amyloidosis. A 67-year-old man developed rapidly progressive glomerulonephritis (RPGN) on a background of primary AL amyloidosis and IgGkappa multiple myeloma. Investigations for causes of glomerulonephritis were negative, and a renal biopsy confirmed crescentic glomerulonephritis and amyloid deposition. He progressed to end stage kidney disease (ESKD) requiring dialysis after 2 months and died 7 months after diagnosis after further treatment of multiple myeloma failed to arrest progression. We believe this to be the first clinical case report of RPGN complicating primary (AL) renal amyloidosis and multiple myeloma.