Resolution of pleura-peritoneal fistula via transient daytime ambulatory peritoneal dialysis regime (DAPD) - 8 years follow up.

Pleural effusion or hydrothorax is a relatively rare but well-recognized complication associated with peritoneal dialysis (PD). We describe the successful long term resolution of a patient who developed pleural effusions after starting continuous ambulatory peritoneal dialysis (CAPD), by altering the PD prescription to normal volume daytime ambulatory peritoneal dialysis (DAPD) transiently before resuming the usual CAPD exchanges four months later. After 8 years of follow up, there is no sign of recurrence of the effusion. Normal volume DAPD present as an attractive alternative and cheap method for resolution of pleura-peritoneal fistula.

Increased psychosocial risk, depression and reduced quality of life living with autosomal dominant polycystic kidney disease.

BACKGROUND: The psychosocial impact of living with autosomal dominant polycystic kidney disease (ADPKD) is poorly understood. In this study, we assessed the overall quality of life (QOL), mood, perceived social support and psychosocial risk of having a diagnosis of ADPKD in a patient cohort from a major UK nephrology centre serving a large catchment population. METHODS: A postal questionnaire was sent to 349 patients registered at the Sheffield Kidney Institute with chronic kidney disease but not on renal replacement therapy (RRT). The questionnaire incorporated three validated forms: kidney disease quality-of-life short form (KDQOL SF1.3) to assess QOL; nine-item patient health questionnaire (PHQ9) to screen for depression; multidimensional scale of perceived social support (MSPSS) to evaluate perceived social support; as well as a novel genetic psychosocial risk instrument (GPRI-ADPKD) designed to study the specific psychosocial impact of coping with a diagnosis of ADPKD. RESULTS: The overall response rate was 53%. Patients with a lower estimated glomerular filtration rate (<30 mL/min) or larger kidneys (mean length on ultrasound ≥17 cm) reported reduced QOL and increased psychosocial risk. Clinically significant depression was reported in 22% and 62% felt guilty about passing ADPKD on to their children. In multivariate analysis, female gender was associated with overall poorer psychosocial well-being, whereas increasing age, lower kidney function, larger kidneys and loss of a first degree relative from ADPKD were additional risk factors for QOL, depression or psychosocial risk, respectively. CONCLUSIONS: Our results reveal a significantly poorer QOL and increasing psychosocial risk with markers of disease progression in patients, particularly women, with ADPKD prior to starting RRT. The future management strategy of ADPKD should address these issues and provide for better individual and family support throughout the patient journey.

Immune thrombocytopenic purpura masking the fatal potential of calciphylaxis in a haemodialysis patient.

Calciphylaxis on the background of immune thrombocytopenic purpura (ITP) has never been described. The pathogenesis of calciphylaxis is complex and not fully understood as yet. ITP has a complex pathogenesis that leads to bleeding or thrombotic events. Although ITP is treatable and reversible, calciphylaxis on the other hand, responds poorly to treatment and carries high mortality and morbidity. We present a case of a 56-year-old lady with end-stage renal disease with ITP, who complained of 1-month history of painful necrotic patches over the thighs. Due to delayed diagnosis, the patient deteriorated and passed away despite aggressive multidisciplinary approach. This case highlights the importance of early recognition of the increased thrombotic risk in an end-stage renal failure patient with poor phosphate control and ITP.

Sudden death due to subarachnoid haemorrhage in an infant with autosomal dominant polycystic kidney disease.

Intracranial aneurysm rupture is the most serious and potentially lethal extra-renal manifestation of autosomal dominant polycystic kidney disease (ADPKD). Almost all cases of ruptured intracranial aneurysm occur in adult patients with a median age of rupture of 40 years. We report the occurrence of sudden death in a newborn infant born to a mother with typical ADPKD in the first week of life. Post-mortem examination revealed the cause of death to be subarachnoid haemorrhage with focal glomerular and tubular cysts detected in the kidney. This is the earliest reported case of intracranial aneurysm rupture in ADPKD and should raise awareness of this rare but lethal complication in younger patients.

Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA.

BACKGROUND AND AIM: Focal segmental glomerulosclerosis (FSGS) is a common cause of idiopathic nephrotic syndrome in adults (35%). A number of genetic and familial forms of FSGS have been recognized. Here, we report a large pedigree with a pathogenic mutation in LMNA (R349W) in which four members were found to have biopsy-proven FSGS. The LMNA gene codes for lamins A and C, major components of the nuclear lamina which function in nuclear architecture, integrity and the regulation of gene expression. METHODS: Pedigree screening and mutation analysis of LMNA gene in all family members. Renal biopsies were performed in proteinuric patients. A molecular 3D model of the familial LMNA mutation was constructed. RESULTS: There were a total of 16 affected members from four generations, 12 of whom were found to carry the germline LMNA mutation. All affected adults had clinical features of familial partial lipodystrophy (FPLD) of the non-Dunnigan variety. Four patients within the same generation presented with a variable degree of renal impairment and proteinuria. Renal biopsies from all four revealed FSGS. The familial mutation is a missense change (R349W) in exon 6 of LMNA (c.1045C>T). CONCLUSIONS: We report a genetic link between LMNA and biopsy-proven FSGS in a large pedigree with FPLD. This unexpected association extends the disease spectrum of LMNA to the kidney and suggests that the physiological role of LMNA could be relevant to the maintenance of glomerular structure and function.

Management of heparin-induced thrombocytopenia (HIT) in patients with systemic vasculitis and pulmonary haemorrhage.

Heparin-induced thrombocytopenia (HIT) is a relatively uncommon but potentially fatal complication of the use of heparin in haemodialysis. It is associated with a risk of venous and arterial thrombosis due to the formation of a heparin-platelet factor 4 antibody. Early recognition and immediate treatment of HIT are crucial to reduce the morbidity and mortality rate. Here, we report two patients with acute kidney injury due to anti-glomerular membrane (GBM) glomerulonephritis and granulomatosis with polyangiitis respectively who developed haemoptysis and pulmonary haemorrhage complicated by HIT. We discuss the diagnostic and management challenges of such patients.