Epstein-Barr virus associated colitis in kidney transplant patients: a case series.

BACKGROUND: Gastrointestinal complications are common in kidney transplant (KT) patients and can be a consequence of the chronic use of immunosuppression. The differential diagnosis of colitis in KT patients includes intolerance to immunosuppressive agents, namely mycophenolate mofetil, de novo inflammatory bowel disease (IBD) and opportunistic infections. Epstein-Barr virus (EBV) infection may cause post-transplant colitis or trigger de novo IBD, although is seldom thought as the causative pathogen. OBJECTIVES: To describe clinical characteristics, endoscopic and histological findings, treatment and outcome of three patients that developed EBV associated colitis following kidney transplantation. METHODS: We retrospectively analyzed three patients with EBV associated colitis; clinical data including transplantation, gastrointestinal symptoms, endoscopy findings, and follow-up data was obtained. RESULTS: We present a case series of three patients with EBV colitis following KT, with an average age at clinical presentation of 59 years and elapsed time since the KT ranging from five to 22 years. Clinical manifestations included bloody diarrhoea, abdominal pain, weight loss and/or fever. Cytomegalovirus colitis, mycophenolate mofetil-related colitis, lymphoproliferative disease and graft versus host disease were excluded. One patient had a prior diagnosis of IBD. Two of the three patients had an unfavourable outcome with death despite reduction and/or switching of immunosuppressants, optimal medical treatment (including antiviral and intravenous immunoglobulin therapies) and salvage surgical therapy. CONCLUSION: A multidisciplinary approach is necessary to allow an expeditious diagnosis of a rare entity such as EBV associated colitis in KT. Long-term surveillance of these patients and the development of effective and safe therapies is essential.

Hand-Foot-Mouth Disease in an Adult.

Hand-foot-mouth syndrome is a common childhood illness. Although occurrence in adults is rare, its incidence has been increasing. In such cases, it usually presents with atypical symptoms. The authors present the case of a 33-year-old male patient who presented with constitutional symptoms, feverish sensation, and macular palmoplantar rash associated with oral and oropharynx ulcers. The epidemiological history revealed exposure to two cohabitants (children) with a recent diagnosis of hand-foot-mouth disease (HFMD).

Dent's disease: An unusual cause of kidney failure.

Dent's disease is an X-linked recessive disease characterized by proximal tubulopathy with low-molecular weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and kidney failure. It is mainly caused by mutations in the CLCN5 or OCRL1 genes, and only ~ 250 families have been identified with these mutations. We present a 31-year-old male referred to a nephrology consultation due to elevated serum creatinine and a history of nephrolithiasis. Complementary evaluation revealed protein/creatinine ratio of 1.9 g/g and albumin/creatinine ratio of 0.5 g/g, hypercalciuria and medullary nephrocalcinosis. These findings raised the suspicion of Dent's disease, which was confirmed by genetic testing. A missense mutation in the CLCN5 gene (c.810C>G, p.(Ser270Arg)), not previously reported in populational databases, was identified. During the evaluation of the patient, it came to our attention that a first-degree male cousin was being followed in our kidney transplantation unit. Given the unknown etiology of his chronic kidney disease, genetic testing was performed, identifying the same mutation. This case highlights the importance of considering the diagnosis of Dent's disease in the setting of a male patient with chronic kidney disease of unknown etiology, low-molecular-weight proteinuria, hypercalciuria, and nephrocalcinosis. Despite progression to end-stage kidney failure in a significant portion of male patients, there are no reports of recurrence after kidney transplantation.

Why Donors Do Not Donate: A Living Donation Program Experience.

BACKGROUND: A living donor (LD) kidney transplant is the best therapeutic option for end-stage kidney disease. Potential donors must undergo multiple analyses and the rates of live donation can be as low as 8% to 18%. Here, we report on the live kidney donor program in our unit with emphasis on the reasons why potential donors do not proceed to donation. METHODS: We performed a single-center retrospective study of all potential kidney donors with a first LD appointment at Centro Hospitalar Universitário do Porto between January 2016 and December 2020. RESULTS: In our cohort there were 395 potential donors. From the potential donors who finished assessment, 131 were approved for donation and 239 dropped out. After assessment, 104 (28.1%) recipients received a living kidney transplant, 24 of which received a living kidney transplant through the kidney paired exchange program. The individuals who did not proceed to the surgery (n = 239) had a median age of 46.5 years, 64.4% were female, and 34 pairs were ABO-incompatible. The most frequent donor-recipient relationships were spouses, siblings and parents. The 2 most important causes of dropout were due to medical, surgical or psychological contraindications and the donor's voluntary withdrawal. When we evaluated the variables most related to dropout, they were not because of being a spouse and ABO incompatibility. CONCLUSIONS: When compared to other studies, we showed a relatively higher rate of successful live donations, possibly aided by the presence of cross-over transplantation. Targeted education and support at an earlier stage of the donor assessment process may lead to a better engagement and lower probability of early dropout.

Pregnancy in a woman undergoing peritoneal dialysis: Management and dialysis options.

Pregnancy in patients with end-stage renal disease on maintenance dialysis is uncommon, with annual incidences reported at 0.3 - 2.7%. Peritoneal dialysis usage in pregnancy has been less reported than hemodialysis, although outcomes are similar. Nowadays, there are insufficient data to establish a generalizable dialysis strategy in pregnant women with end-stage renal disease. As such, decisions should be individualized, depending on clinical factors, residual renal function, and, whenever possible, choice of the patient. We report the case of a 22-year-old patient receiving peritoneal dialysis who delivered a full-term, normal weight, healthy baby with increased dialysis dose achieved by supplementary hemodialysis during pregnancy, thus enabling peritoneal dialysis to be continued until the third trimester and minimizing hemodialysis requirements.

Thrombotic microangiopathy triggered by podocytopathy.

Thrombotic microangiopathy (TMA) is a rare group of diseases characterized by microangiopathic hemolytic anemia, thrombocytopenia, and target organ damage. It can be divided into primary and secondary TMA. Herein we report a case of TMA associated to a primary glomerular disease. We report the case of a 31-year-old Black male from Cape Verde admitted in March 2018 with nephrotic syndrome and upper gastrointestinal bleeding, the latter due to severe erythematous gastritis. He was discharged after clinical stabilization. The patient came to Portugal 8 months later. On admission, he presented with rapid deterioration of kidney function and hyperkalemia. The etiologic study revealed microangiopathic hemolytic anemia, nephrotic syndrome and microscopic hematuria. Immunologic study and viral serology were negative. ADAMTS13 activity and inhibitor testing were within normal range, genetic complement evaluation showed CFH-H3 in homozygosity, functional complement studies revealed decreased function of alternative pathway. Kidney biopsy was consistent with the diagnosis of TMA, and electron microscopy was compatible with minimal change disease. Patient underwent plasmapheresis with resolution of hemolysis, fluid overload and recovery of renal function. Two months later, he presented with nephrotic syndrome and started prednisolone with remission. Six months later, the nephrotic syndrome relapsed, and it became steroid-, MMF-, and rituximab-resistant. Tacrolimus was initiated, achieving partial remission. Atypical hemolytic uremic syndrome is an uncommon disease and is rarely reported as secondary to glomerular diseases. This case showcases the challenges regarding treatment options in a resistant glomerulopathy and the implications of therapeutic choices and kidney outcomes with the coexisting TMA.

Novel SLC12A3 mutation in Gitelman syndrome.

Gitelman syndrome (GS) is an autosomal recessive disease characterised by the presence of hypokalaemic metabolic alkalosis with hypomagnesaemia and hypocalciuria. The prevalence of this disease is 1-10/40 000. GS is usually associated with mild and non-specific symptoms and many patients are only diagnosed in adulthood. The disease is caused by mutations in the SLC12A3 gene. We present the case of a 49-year-old man referred to a nephrology appointment due to persistent hypokalaemia and hypomagnesaemia. Complementary evaluation revealed hypokalaemia, hypomagnesaemia, metabolic alkalosis, hyperreninaemia, increased chloride and sodium urinary excretion, and reduced urinary calcium excretion. Renal function, remainder serum and urinary ionogram, and renal ultrasound were normal. A diagnosis of GS was established and confirmed with genetic testing which revealed a novel mutation in SLC12A3 (c.1072del, p.(Ala358Profs*12)). This novel mutation extends the spectrum of known SLC12A3 gene mutations and further supports the allelic heterogeneity of GS.