TRPC6 and NPHS2 gene variants in adult patients with steroid-resistant nephrotic syndrome in North-West of Iran.

Podocyte gene mutations and their role in the development of nephrotic syndrome (NS) have been reported in some ethnic groups. The aim of this study was to evaluate the presence of possible variants in TRCP6 and NPHS2 (podocin) genes and their association with clinical manifestations in a group of adult patients with steroid resistant nephrotic syndrome (SRNS). All participants including 36 patients with SRNS and 71 healthy volunteers were genotyped using polymerase chain reaction (PCR) and direct sequencing. Whole exons of NPHS2 gene and -254 C > G, -218 C > T, and -361 A > T polymorphisms in the promoter of TRPC6 gene were studied. There were no significant differences in the allele and genotype frequencies of aforementioned TRCP6 polymorphisms between cases and controls (P > 0.05). However, four novel polymorphisms including - 257 T > C, - 266 G > A, - 293 G > C, and - 21 G > A found in the promoter region of TRPC6 gene that may be involved in SRNS in our cohort. In NPHS2 gene, three different polymorphisms in the NPHS2 gene were found in 7 patients with FSGS and none of the previously reported risk polymorphisms was detected in our patients. Podocin related mutations are not too much associated with SRNS in adults, but we should consider the possibility of TRPC6 gene mutation in this population.

Osmolytes resist against harsh osmolarity: Something old something new.

From the halophilic bacteria to human, cells have to survive under the stresses of harsh environments. Hyperosmotic stress is a process that triggers cell shrinkage, oxidative stress, DNA damage, and apoptosis and it potentially contributes to a number of human diseases. Remarkably, by high salts and organic solutes concentrations, a variety of organisms struggle with these conditions. Different strategies have been developed for cellular osmotic adaptations among which organic osmolyte synthesis/accumulation is a conserved once. Osmolytes are naturally occurring solutes used by cells of several halophilic (micro) organisms to preserve cell volume and function. In this review, the osmolytes diversity and their protective roles in harsh hyperosmolar environments from bacteria to human cells are highlighted. Moreover, it provides a close look at mammalian kidney osmoregulation at a molecular level. This review provides a concise view on the recent developments and advancements on the applications of osmolytes. Identification of disease-related osmolytes and their targeted-delivery may be used as a therapeutic measurement for treatment of the pathological conditions and the inherited diseases related to protein misfolding and aggregation. The molecular and cellular aspects of cell adaptation against harsh environmental osmolarity will benefit the development of effective drugs for many diseases.

An update on renal involvement in hemophagocytic syndrome (macrophage activation syndrome).

CONTEXT: Hemophagocytic syndrome (HPS) is mainly characterized by massive infiltration of bone marrow by activated macrophages and often presents with pancytopenia. Thrombotic microangiopathy (TMA) is also present with thrombocytopenia and renal involvement. Both conditions could coexist with each other and complicate the condition. EVIDENCE ACQUISITION: Directory of Open Access Journals (DOAJ), EMBASE, Google Scholar, PubMed, EBSCO, and Web of Science with keywords relevant to; Hemophagocytic syndrome, macrophage activation syndrome, interferon-gamma and thrombotic microangiopathy, have been searched. RESULTS: Viral infection, rheumatologic disease and malignancies are the main underlying causes for secondary HPS. calcineurin inhibitors and viral infections are also the main underlying causes of TMA in transplant recipients. In this review, we discussed a 39-year-old male who presented with pancytopenia and renal allograft dysfunction. With the diagnosis of HPS induced TMA his renal condition and pancytopenia improved after receiving intravenous immunoglobulin (IVIG) and plasmapheresis therapy. CONCLUSIONS: HPS is an increasingly recognized disorder in the realm of different medical specialties. Renal involvement complicates the clinical picture of the disease, and this condition even is more complex in renal transplant recipients. We should consider the possibility of HPS in any renal transplant recipient with pancytopenia and allograft dysfunction. The combination of HPS with TMA future increases the complexity of the situation.

BK virus nephropathy is not always alone.

INTRODUCTION: BK virus associated allograft nephropathy (BKVAN) is an important cause of allograft lost that often occurs in the first year of transplantation. The state of over immunosuppression also predispose these patients to various opportunistic viral infection Objectives: This research aimed to study the renal transplanted patients for BK viremia and BKVAN. PATIENTS AND METHODS: This observational study was conducted between January 2013 to December 2014 to study the renal transplanted patients for BK viremia and BKVAN. In our center patients received combination of de-sensitization therapy including antithymocyte globulin (ATG), rituximab (RITU), basiliximab, therapeutic plasma exchange, and methylprednisolone (MTP), in high risks or only MTP therapy in immunologically low risk patients. RESULTS: Of total number of 26 patients (20-52 years, M/F 17/9), seven patients received ATG and seven patient received intensive desensitizing protocols, BKVAN and BK viremia happened in three and two patients in above groups subsequently, only one patient developed BKVAN in low risk group. We also observed; cytomegalovirus (CMV) and parvovirus B19 infection and hemophagocytic syndrome (HPS), thrombotic microangiopathy (TMA) and endocarditis in our patients with BKVAN and BK viremia. CONCLUSION: Awareness about the possibility of BK virus nephropathy and appropriate immunosuppression minimization are crucial components of management. Consideration of other opportunistic infections and specific syndromes are also very important.

Hemorrhagic Fever with renal syndrome and its history in Iran.

Hemorrhagic fever with renal syndrome (HFRS) is a serious human disease of zoonotic viral origin. A group of different viruses that belong to the family of hemorrhagic fever could represent with HFRS. The basic pathophysiologic feature is virus-induced leaky microcirculation. There is no effective antiviral treatment against them. Because of rapid environmental changes, global warming, and increased global traveling, different hemorrhagic fever syndromes could be found anywhere in the world and beyond their old endemic borders. This review is a brief overview of HFRS in Iran during the early and mid-twentieth century.

Acute tubular necrosis after renal allograft segmental infarction: the nephrotoxicity of necrotic material.

OBJECTIVES: Renal allograft dysfunction can be caused by renal vessel thrombosis, acute tubular necrosis, hyperacute or acute rejection, nephrotoxicity induced by cyclosporine or tacrolimus, thrombotic microangiopathy, or urinary tract obstruction. MATERIALS AND METHODS: We describe a renal transplant recipient in whom oliguria developed during the first week after transplant, although his early renal allograft function was good. RESULTS: A Doppler ultrasonographic study revealed a lack of perfusion in the lower pole of the allograft. A perfusion defect was noted in the lower pole that was supplied by a polar artery, which had been damaged during engraftment. Light microscopy disclosed tubular cell necrosis without evidence of vascular or humoral rejection. CONCLUSIONS: We suggest that toxic molecules such as tumor necrosis factor-alpha released from a segmental infarcted area can induce tubular cell damage and necrosis leading to renal allograft dysfunction.

Factitial pemphigus-like lesions

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The maxillofacial region is rarely subjected to self-inflicted conditions such as factitious disease. Nasal ulceration, facial emphysema, periorbital ecchymosis, mandibular subluxation, gingival and mucosal ulceration, dental and salivary gland pain and glossopharyngeal neuralgia have been reported as possible manifestations of factitious disease. We report a case of a young woman who presented with unilateral bullous and ulcerative oral and erythematous facial lesions that were initially diagnosed as pemphigus vulgaris but was later determined to be secondary to self-inflicted injuries. To the best of the authors’ knowledge, this clinical scenario has not been previously reported in the context of a factitious disease and, therefore, may be considered in the differential diagnosis of oral vesiculobullous disorders