scholarly journals Scrub typhus leading to focal segmental glomerulosclerosis in a child due to genetic predisposition

2020 ◽  
Vol 7 (8) ◽  
pp. 1812
Author(s):  
Shreyasi Das ◽  
Rajendra Pandey ◽  
Sumit Roy
Keyword(s):  
Focal Segmental Glomerulosclerosis ◽  
Scrub Typhus ◽  
Renal Involvement ◽  
Kidney Injury ◽  
Female Child ◽  
Atypical Pneumonia ◽  
Missense Mutations ◽  
High Grade Fever ◽  
Multisystem Disease ◽  
Segmental Glomerulosclerosis

Scrub typhus is a multisystem disease, caused by genera orientia tsutsugamushi and is currently endemic in India. In children, the disease may vary from a mild to a severe form. Complications include encephalitis, myocarditis, disseminated intravascular coagulation, acute kidney injury, atypical pneumonia, etc. The pathophysiologic mechanisms of renal involvement in scrub typhus include prerenal failure, septic shock, vasculitis, acute tubular injury and direct renal invasion by rickettsia. Here, authors present the case of a previously well 5-year old female child who was admitted to our hospital with a history of high-grade fever and pain abdomen. IgM scrub typhus turned out to be positive and she was adequately treated with doxycycline. She turned afebrile but then gradually developed anasarca, hematuria, proteinuria and persistent stage 2 hypertension. Kidney biopsy was done which revealed focal segmental glomerulosclerosis (FSGS). Further workup of the patient by whole exome sequencing revealed missense mutations in TBX18, INF2 and NPHS1 genes. Mutations in INF2 gene is a recently discovered cause of autosomal dominant FSGS. In our case, the scrub typhus mediated kidney injury probably acted as a trigger in unmasking FSGS in the already genetically susceptible child.

scholarly journals Mechanical challenges and cytoskeletal impairments in focal segmental glomerulosclerosis

2018 ◽  
Vol 314 (5) ◽  
pp. F921-F925 ◽  
Author(s):  
Di Feng ◽  
Clark DuMontier ◽  
Martin R. Pollak
Keyword(s):  
Blood Flow ◽  
Focal Segmental Glomerulosclerosis ◽  
Kidney Injury ◽  
Future Research ◽  
Disease States ◽  
Filtration Barrier ◽  
Segmental Glomerulosclerosis ◽  
The Face ◽  
Foot Process ◽  
Future Research Directions

Focal segmental glomerulosclerosis (FSGS) is a histologically defined form of kidney injury typically mediated by podocyte dysfunction. Podocytes rely on their intricate actin-based cytoskeleton to maintain the glomerular filtration barrier in the face of mechanical challenges resulting from pulsatile blood flow and filtration of this blood flow. This review summarizes the mechanical challenges faced by podocytes in the form of stretch and shear stress, both of which may play a role in the progression of podocyte dysfunction and detachment. It also reviews how podocytes respond to these mechanical challenges in dynamic fashion through rearranging their cytoskeleton, triggering various biochemical pathways, and, in some disease states, altering their morphology in the form of foot process effacement. Furthermore, this review highlights the growing body of evidence identifying several mutations of important cytoskeleton proteins as causes of FSGS. Lastly, it synthesizes the above evidence to show that a better understanding of how these mutations leave podocytes vulnerable to the mechanical challenges they face is essential to better understanding the mechanisms by which they lead to disease. The review concludes with future research directions to fill this gap and some novel techniques with which to pursue these directions.

scholarly journals Scrub typhus, a rare of cause of fulminant hepatic failure: A common disease with uncommon presentation

2022 ◽  
pp. 526-528
Author(s):  
Subramani Jagadeesan ◽  
Pranav Patel ◽  
Ajay Jain
Keyword(s):  
Fulminant Hepatic Failure ◽  
Hepatic Failure ◽  
Scrub Typhus ◽  
Kidney Injury ◽  
Asia Pacific ◽  
Common Disease ◽  
Antibiotic Administration ◽  
Elderly Male ◽  
High Grade Fever ◽  
Uncommon Presentation

Scrub typhus (bush typhus) is a potentially lethal mite-borne, acute febrile infectious illness caused by Orientia tsutsugamushi, reported precipitating frequent outbreaks in the Asia-pacific belt. Usual presentation after a median incubation period of 10–14 days, stretches from pathognomonic eschar, high-grade fever, centrifugal skin rash, jaundice, regional lymphadenopathy to frontal headache, nevertheless complicated at times with myocarditis, acute respiratory distress syndrome, acute kidney injury, encephalitis, and shock. Although patients with scrub typhus invariably do display mild liver injury, fulminant hepatic failure (FHF) is rarely reported. We describe herein, a case of FHF in an elderly male that responded well to antibiotics. Early diagnosis and sensitive antibiotic administration aids in mortality prevention of the former.

scholarly journals Collapsing focal segmental glomerulosclerosis probably triggered by dengue virus infection - two case reports

2020 ◽  
Author(s):  
Patrícia Cruz Queiroz ◽  
Ana Elisa Souza Jorge ◽  
Plínio Henrique Vaz Mourão ◽  
Maria Goretti Moreira Guimarães Penido
Keyword(s):  
Renal Function ◽  
Nephrotic Syndrome ◽  
Virus Infection ◽  
Dengue Virus ◽  
Focal Segmental Glomerulosclerosis ◽  
Case Reports ◽  
Kidney Injury ◽  
Dengue Virus Infection ◽  
Segmental Glomerulosclerosis ◽  
Collapsing Fsgs

Abstract The reported cases describe the association between collapsing focal segmental glomerulosclerosis (FSGS) and acute dengue virus infection. In both cases, patients were diagnosed with dengue virus infection and had a severe kidney disease, with nephrotic syndrome and acute kidney injury. Kidney biopsy was performed and showed collapsing FSGS. The first patient, a 27-year-old man, was diagnosed with dengue virus infection and developed nephrotic syndrome after two weeks of illness. He was treated with methylprednisolone for three days and intravenous furosemide. This patient evolved well, although his renal function did not fully recover. The second patient, a 32-year-old man, was diagnosed with a milder clinical presentation of dengue virus infection. He had a past medical history of nephrotic syndrome in childhood, which might have caused its relapse. This patient was treated with intravenous furosemide and also did not fully recover renal function. These cases highlight the possible implication of dengue virus infection in the etiology of collapsing variant of FSGS. Healthcare professionals should be prepared to identify similar cases.

scholarly journals Early Focal Segmental Glomerulosclerosis as a Cause of Renal Allograft Primary Nonfunction

2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
Emma J. Griffin ◽  
Peter C. Thomson ◽  
David Kipgen ◽  
Marc Clancy ◽  
Conal Daly
Keyword(s):  
Renal Transplantation ◽  
Acute Rejection ◽  
Focal Segmental Glomerulosclerosis ◽  
Renal Allograft ◽  
Recurrent Disease ◽  
Graft Function ◽  
Kidney Injury ◽  
Renal Allografts ◽  
Primary Nonfunction ◽  
Segmental Glomerulosclerosis

Background.Primary focal segmental glomerulosclerosis (FSGS) is one of the commonest causes of glomerular disease and if left untreated will often progress to established renal failure. In many cases the best treatment option is renal transplantation; however primary FSGS may rapidly recur in renal allografts and may contribute to delayed graft function. We present a case of primary nonfunction in a renal allograft due to biopsy-proven FSGS.Case Report.A 32-year-old man presented with serum albumin of 22 g/L, proteinuria quantified at 12 g/L, and marked peripheral oedema. Renal biopsy demonstrated tip-variant FSGS. Despite treatment, the patient developed progressive renal dysfunction and was commenced on haemodialysis. Cadaveric renal transplantation was undertaken; however this was complicated by primary nonfunction. Renal biopsies failed to demonstrate evidence of acute rejection but did demonstrate clear evidence of FSGS. The patient was treated to no avail.Discussion.Primary renal allograft nonfunction following transplantation is often due to acute kidney injury or acute rejection. Recurrent FSGS is recognised as a phenomenon that drives allograft dysfunction but is not traditionally associated with primary nonfunction. This case highlights FSGS as a potentially aggressive process that, once active in the allograft, may prove refractory to targeted treatment. Preemptive therapies in patients deemed to be at high risk of recurrent disease may be appropriate and should be considered.

scholarly journals A rare renal involvement in a patient with axial Spondyloarthritis: don’t miss focal segmental glomerulosclerosis and hyalinosis

2021 ◽  
Author(s):  
Tbini Houssem ◽  
Soumaya Boussaid ◽  
ikram mami ◽  
Sonia Rekik ◽  
Lilia Ben Fatma ◽  
...  
Keyword(s):  
Pleural Effusion ◽  
Renal Biopsy ◽  
Iga Nephropathy ◽  
Focal Segmental Glomerulosclerosis ◽  
Axial Spondyloarthritis ◽  
Renal Involvement ◽  
Segmental Glomerulosclerosis

Renal involvement in spondyloarthritis is dominated by amyloidosis, IgA nephropathy and urolithiasis. Other nephropathies are rare . A patient followed for SpA consults with edema , hydrocele and a pleural effusion. A FSGS was confirmed by renal biopsy and the etiological investigation has ruled out the causes of secondary FSGS.

scholarly journals Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis

2019 ◽  
Vol 20 (3) ◽  
pp. 519 ◽  
Author(s):  
Jenny Frese ◽  
Matthias Kettwig ◽  
Hildegard Zappel ◽  
Johannes Hofer ◽  
Hermann-Josef Gröne ◽  
...  
Keyword(s):  
Renal Failure ◽  
Basement Membrane ◽  
Focal Segmental Glomerulosclerosis ◽  
Glomerular Basement Membrane ◽  
Kidney Diseases ◽  
Kidney Injury ◽  
Slit Diaphragm ◽  
Filtration Barrier ◽  
Segmental Glomerulosclerosis ◽  
Case Series Study

Kidney injury due to focal segmental glomerulosclerosis (FSGS) is the most common primary glomerular disorder causing end-stage renal disease. Homozygous mutations in either glomerular basement membrane or slit diaphragm genes cause early renal failure. Heterozygous carriers develop renal symptoms late, if at all. In contrast to mutations in slit diaphragm genes, hetero- or hemizygous mutations in the X-chromosomal COL4A5 Alport gene have not yet been recognized as a major cause of kidney injury by FSGS. We identified cases of FSGS that were unexpectedly diagnosed: In addition to mutations in the X-chromosomal COL4A5 type IV collagen gene, nephrin and podocin polymorphisms aggravated kidney damage, leading to FSGS with ruptures of the basement membrane in a toddler and early renal failure in heterozygous girls. The results of our case series study suggest a synergistic role for genes encoding basement membrane and slit diaphragm proteins as a cause of kidney injury due to FSGS. Our results demonstrate that the molecular genetics of different players in the glomerular filtration barrier can be used to evaluate causes of kidney injury. Given the high frequency of X-chromosomal carriers of Alport genes, the analysis of genes involved in the organization of podocyte architecture, the glomerular basement membrane, and the slit diaphragm will further improve our understanding of the pathogenesis of FSGS and guide prognosis of and therapy for hereditary glomerular kidney diseases.

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