scholarly journals A Novel Homozygous Mutation in the COL4A4 Gene (Gly1436del) Causing Alport Syndrome Exposed by Pregnancy: A Case Report and Review of the Literature

2022 ◽  
Vol 2022 ◽  
pp. 1-5
Author(s):  
Ulrich Jehn ◽  
Cornelie Müller-Hofstede ◽  
Barbara Heitplatz ◽  
Veerle Van Marck ◽  
Stefan Reuter ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Case Report ◽  
Alport Syndrome ◽  
Kidney Biopsy ◽  
Novel Mutation ◽  
Basement Membranes ◽  
Homozygous Mutation ◽  
Lamina Densa ◽  
Case Presentation ◽  
Hereditary Defect

Background. Alport syndrome results from a hereditary defect of collagen IV synthesis. This causes progressive glomerular disease, ocular abnormalities, and inner ear impairment. Case Presentation. Herein, we present a case of Alport syndrome in a 28-year-old woman caused by a novel mutation (Gly1436del) in the COL4A4 gene that was not unveiled until her first pregnancy. Within the 29th pregnancy week, our patient presented with massive proteinuria and nephrotic syndrome. Light microscopic examination of a kidney biopsy showed typical histological features of segmental sclerosis, and electron microscopy revealed extensive podocyte alterations as well as thickness of glomerular basement membranes with splitting of the lamina densa. One and a half years after childbirth, renal function deteriorated to a preterminal stage, whereas nephrotic syndrome subsided quickly after delivery. Conclusion. This case report highlights the awareness of atypical AS courses and emphasizes the importance of genetic testing in such cases.

scholarly journals Case report: a 5-year-old with new onset nephrotic syndrome in the setting of COVID-19 infection

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Kelsi M. Morgan ◽  
Peace D. Imani
Keyword(s):  
Nephrotic Syndrome ◽  
Case Report ◽  
Pediatric Patient ◽  
Corticosteroid Therapy ◽  
Clinical Remission ◽  
Laboratory Findings ◽  
Case Presentation ◽  
The Third ◽  
First Case ◽  
New Onset

Abstract Background This is a case report of an asymptomatic SARS-CoV-2 infection associated with new-onset nephrotic syndrome in a pediatric patient. This is the third case of new-onset nephrotic syndrome in children associated with SARS-CoV-2 infection, but is the first case report describing a new-onset nephrotic syndrome presentation in a patient who had asymptomatic COVID-19 infection. Case presentation This is a case of a previously healthy 5 year old female who presented with new-onset nephrotic syndrome in the setting of an asymptomatic COVID-19 infection. She presented with progressive edema, and laboratory findings were significant for proteinuria and hypercholesterolemia. She was treated with albumin, diuretics, and corticosteroid therapy, and achieved clinical remission of her nephrotic syndrome within 3 weeks of treatment. Though she was at risk of hypercoagulability due to her COVID-19 infection and nephrotic syndrome, she was not treated with anticoagulation, and did not develop any thrombotic events. Conclusions Our case report indicates that SARS-CoV-2 infection could be a trigger for nephrotic syndrome, even in the absence of overt COVID-19 symptoms.

scholarly journals A Novel RFXANK Mutation in a Chinese Child With MHC II Deficiency: Case Report and Literature Review

2020 ◽  
Vol 7 (8) ◽  
Author(s):  
Yu Qing Cai ◽  
HangHu Zhang ◽  
Xiang Zhi Wang ◽  
ChengYun Xu ◽  
Yun Qi Chao ◽  
...  
Keyword(s):  
Case Report ◽  
Mhc Class Ii ◽  
Novel Mutation ◽  
Gene Mutations ◽  
Class Ii ◽  
Homozygous Mutation ◽  
Primary Immunodeficiency Disorder ◽  
Mhc Ii ◽  
First Case ◽  
Rfxank Gene

Abstract Major histocompatibility complex (MHC) II deficiency is a rare primary immunodeficiency disorder that is characterized by the deficiency of MHC class II molecules. The disease is caused by transcription factor mutations including class II transactivator (CIITA), regulatory factor X-5 (RFX5), RFX-associated protein (RFXAP), and RFXAP-containing ankyrin repeat (RFXANK), respectively. Mutations in the RFXANK gene account for >70% of all known patients worldwide. Herein, we reported a 10-month-old boy with MHC II deficiency caused by a novel mutation in the RFXANK gene (c.337 + 1G>C). The boy was admitted to the hospital due to pneumonia and diarrhea at 4 months of age. Genetic analysis revealed a novel homozygous mutation in the RFXANK gene, which derived from the c.337 + 1G>C heterozygous mutations in the RFXANK gene of his parents. The boy died 3 months after diagnosis. More than 200 cases have been reported, and a review of the literature revealed different mutation rates of 4 transcription factors in different countries or regions. This is the first case report of MHC II deficiency from East Asia. We also describe all gene mutations that cause MHC II deficiency and the epidemiology of MHC II deficiency with gene mutations in this paper.

scholarly journals MODERN PROBLEMS OF АLPORT SYNDROME DIAGNOSIS

2020 ◽  
Vol 25 ◽  
pp. 21-25
Author(s):  
Olena Bratnova
Keyword(s):  
Family History ◽  
Alport Syndrome ◽  
Kidney Biopsy ◽  
Clinical Manifestations ◽  
Basement Membranes ◽  
Diagnostic Methods ◽  
Collagen Type Iv ◽  
Educational Work ◽  
Type Iv ◽  
Analysis And Synthesis

Introduction. In the practice of adult nephrologists there are cases of rare genetically caused kidney damage, in particular, Alport syndrome. This is due to the availability and improvement of instrumental diagnostic methods, timely approaches to treatment in pediatric practice, and prolongation of the pre-dialysis period. Goal. Analysis and synthesis of new data from domestic and foreign sources on the etiology, pathogenesis, clinical manifestations, types of inheritance, differential diagnosis of Alport syndrome in order to improve the success of students, interns and teachers in the study of nephrological subjects. Material and methods. Review of contemporary and foreign literary sources; techniques – description, analysis, abstracting. Results. Alport syndrome (AS, synonym: hereditary nephritis) is non-immune genetically determined glomerulopathy caused by a mutation of genes that encode collagen type IV of basement membranes, manifested by hematuria and / or proteinuria, a progressive decreased renal function, combined with pathology of hearing and abnormalities affecting the eyes. Alport syndrome inherited type: X-linked dominant (XLAS): 85%, autosomal recessive (ARAS): 15%, autosomal dominant (ADAS): 1%. Conclusions. Family history, electron microscopy, immunochemical analysis of type IV collagen expression are informative for verifying the diagnosis of Alport syndrome. Due to the rarity of this disease, in addition, the fact that patients often refuse kidney biopsy, it is necessary to cooperate more closely with genetic laboratories, to take measures to improve the availability of molecular analysis of mutations of collagen IV genes. In addition, it is a fact that sometimes the family history of the disease is ambiguous, unavailable for genetic analysis, and patients refuse to have a kidney biopsy. It is a motive to encourage doctors to improve their educational work with patients about safety of this analysis and its value.

scholarly journals Rhabdomyosarcoma in a child with nephrotic syndrome treated with cyclosporine: a case report with literature review

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Huai-Chueh Gem Wu ◽  
Chao-Neng Cheng ◽  
Jiann-Shiuh Chen ◽  
Yuan-Yow Chiou
Keyword(s):  
Nephrotic Syndrome ◽  
Case Report ◽  
Immunosuppressive Therapy ◽  
Female Child ◽  
Magnetic Resonance Imaging Scan ◽  
Creatinine Ratio ◽  
Resonance Imaging ◽  
Urine Protein ◽  
Case Presentation ◽  
Frequently Relapsing Nephrotic Syndrome

Abstract Background In patients with frequently relapsing nephrotic syndrome, immunosuppressive therapy such as cyclosporine are often required to maintain remission. Cyclosporine has been noted to have tumorgenesis effects. In this case report, we present a child with relapsing nephrotic syndrom developed a rhabdomyosarcoma on her tongue after adout 4 years of continual immunosuppressive therapy. Case presentation A 2-year-old female child had nephrotic syndrome (urine protein-creatinine ratio 749.1 mg/mg; blood urea nitrogen 11 mg/dL; serum creatinine 0.3 mg/dL; and serum albumin 1.8 g/dL.) Proteinuria resolved on treatment with daily prednisolone for 4 weeks at the dose of 45 mg (2.5 mg/kg/day) but recurred with taper from 25 mg/day to 10 mg/day. At least five more episodes of relapse occurred within about a 3-year period. After the third relapse, she was treated with prednisolone and cyclosporine (at initial dose of 50 mg/day [1.7 mg/kg/day]) for immunosuppression. About 4 years after the diagnosis of nephrotic syndrome had been made, an embryonal rhabdomyosarcoma developed on her tongue. The cancer was treated with TPOG-RMS-LR protocol, with vincristine, actinomycin, and cyclophosphamide. Magnetic resonance imaging scan, performed about 3 years after the start of TPOG-RMS-LR therapy, revealed complete remission of the cancer. Conclusions Although treatment with cyclosporine cannot be conclusively implicated as the cause the rhabdomyosarcoma in this patient, the association should prompt consideration of its use in the treatment of frequently relapsing nephrotic syndrome in children.

scholarly journals SPOAN syndrome: a novel mutation and new ocular findings; a case report

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Fatemeh Bazvand ◽  
Mohammad Keramatipour ◽  
Hamid Riazi-Esfahani ◽  
Alireza Mahmoudi
Keyword(s):  
Case Report ◽  
Optic Atrophy ◽  
Novel Mutation ◽  
Retinal Pigment ◽  
Clinical Findings ◽  
Peripheral Retina ◽  
Spastic Paraplegia ◽  
Case Presentation ◽  
Full Field ◽  
Vascular Attenuation

Abstract Background To report a novel mutation and new clinical findings in a case with SPOAN syndrome (spastic paraplegia, optic atrophy, neuropathy). Case presentation Clinical examination, genetic testing and electroretinography were used to study a 2-year-old child who was referred to our clinic with no visual attention and documented SPOAN syndrome. Fundoscopy revealed optic atrophy, diffuse retinal pigment mottling, severe vascular attenuation, and completely non-vascularized peripheral retina in both eyes. Full-field electroretinogram (ERG) revealed flat responses. Conclusions Severe retinopathy and flat full-field ERG responses can occur in SPOAN syndrome.

scholarly journals Efficacy of rituximab in thymoma associated minimal change disease: case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Zhour El Ouafi ◽  
Clovis Mugnier ◽  
Robin Jeannet ◽  
Clément Danthu ◽  
Marion Duval ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Case Report ◽  
Minimal Change Disease ◽  
Minimal Change ◽  
Case Presentation ◽  
Pathophysiological Mechanisms ◽  
Cell Dysfunction ◽  
Disease Case ◽  
Therapeutic Principles ◽  
T Cell Dysfunction

Abstract Background Thymomas have been associated with a broad spectrum of autoimmune diseases. Minimal change disease (MCD) is the most frequent pathological lesion reported. Pathophysiological mechanisms involved in secondary MCD, and linking MCD to thymoma are not yet fully explained, although the hypothesis of T cell dysfunction has been suggested. The fundamental therapeutic principles are steroids and surgical treatment of thymoma, but failures and relapses often require immunosuppressant combinations. Case presentation A 62-year-old female was admitted in our unit for a nephrotic syndrome associated with a thymoma. The diagnosis of thymoma associated MCD was confirmed by kidney biopsy. After surgical resection of the thymoma and steroid therapy, no remission was observed. Immunosuppressive therapy was then intensified with introduction of rituximab. Here, we report a steroid-resistant nephrotic syndrome secondary to MCD associated thymoma, which achieved complete remission after rituximab therapy. To the best of our knowledge, this is the first report of the use and efficacy of rituximab therapy in this pathology. Conclusions Our case report suggests that primary and secondary MCD may share similar pathophysiological mechanisms. It does not allow us to draw any conclusions about the mechanism of action of rituximab, but we believe this report argues for the safety and efficacy of rituximab use in thymoma-associated MCD, and therefore constitutes a rationale for future studies.

A Novel Mutation Glyl672→Arg in Type 2A and a Homozygous Mutation in Type 2B von Willebrand Disease

1996 ◽  
Vol 76 (02) ◽  
pp. 253-257 ◽  
Author(s):  
Takeshi Hagiwara ◽  
Hiroshi Inaba ◽  
Shinichi Yoshida ◽  
Keiko Nagaizumi ◽  
Morio Arai ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Mutation ◽  
Point Mutations ◽  
Japanese Patients ◽  
Von Willebrand Disease ◽  
Homozygous Mutation ◽  
Missense Mutations ◽  
Reaction Products ◽  
Type 3 ◽  
Von Willebrand

SummaryGenetic materials from 16 unrelated Japanese patients with von Willebrand disease (vWD) were analyzed for mutations. Exon 28 of the von Willebrand factor (vWF) gene, where point mutations have been found most frequent, was screened by various restriction-enzyme analyses. Six patients were observed to have abnormal restriction patterns. By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense mutation in a patient with type 3 vWD. The G1672R was a novel missense mutation of the carboxyl-terminal end of the A2 domain. In addition, we detected an A/C polymorphism at nucleotide 4915 with HaeIII. There was no particular linkage disequilibrium of the A/C polymorphism, either with the G/A polymorphism at nucleotide 4391 detected with Hphl or with the C/T at 4891 detected with BstEll.

An Obscure Colon Dilatation and its Underlying Cause: Case Report and Literature Review

2020 ◽  
pp. 1-5
Author(s):  
Anton Stift ◽  
Kerstin Wimmer ◽  
Felix Harpain ◽  
Katharina Wöran ◽  
Thomas Mang ◽  
...  
Keyword(s):  
Case Report ◽  
Sigmoid Colon ◽  
Immunohistochemical Staining ◽  
Late Onset ◽  
Hirschsprung Disease ◽  
Endoscopic Examination ◽  
Case Presentation ◽  
Idiopathic Megacolon ◽  
History Of ◽  
Cells Of Cajal

Introduction: Congenital as well as acquired diseases may be responsible for the development of a megacolon. In adult patients, Clostridium difficile associated infection as well as late-onset of Morbus Hirschsprung disease are known to cause a megacolon. In addition, malignant as well as benign colorectal strictures may lead to intestinal dilatation. In case of an idiopathic megacolon, the underlying cause remains unclear. Case Presentation: We describe the case of a 44-year-old male patient suffering from a long history of chronic constipation. He presented himself with an obscurely dilated large intestine with bowel loops up to 17 centimeters in diameter. Radiological as well as endoscopic examination gave evidence of a spastic process in the sigmoid colon. The patient was treated with a subtotal colectomy and the intraoperative findings revealed a stenotic stricture in the sigmoid colon. Since the histological examination did not find a conclusive reason for the functional stenosis, an immunohistochemical staining was advised. This showed a decrease in interstitial cells of Cajal (ICC) in the stenotic part of the sigmoid colon. Discussion: This case report describes a patient with an idiopathic megacolon, where the underlying cause remained unclear until an immunohistochemical staining of the stenotic colon showed a substantial decrease of ICCs. Various pathologies leading to a megacolon are reviewed and discussed.

Descending Cervical-Sacral Pain after the Administration of Antivenom to the Scorpion Sting Poisoning: A Case Report

2020 ◽  
Vol 2 (2) ◽  
pp. 93-96
Author(s):  
Josué Saúl Almaraz Lira ◽  
Alfredo Luis Chávez Haro ◽  
Cristian Alfredo López López ◽  
Remedios del Pilar González Jiménez
Keyword(s):  
Blood Pressure ◽  
Type 2 Diabetes ◽  
Case Report ◽  
Signs And Symptoms ◽  
Cervical Region ◽  
Scorpion Sting ◽  
Case Presentation ◽  
Sacral Region ◽  
Scorpion Stings

Introduction. Scorpion stings occur mainly in spring and summer, with an estimate of 1.2 million cases per year worldwide. About 300,000 poisonings occur within a year, primarily affecting children and adults older than 65 years. In 2019, Guanajuato (Mexico) ranked third in poisoning by scorpion sting with a total of 43,913 cases. The intoxication grades are three where the signs and symptoms are varied. There are two types of antivenom in the Mexican market, and we use Alacramyn® in our case. Case presentation. A 70-year-old female —with grade 1 scorpion sting poisoning, 30 minutes of evolution, with type 2 diabetes and high blood pressure— received two vials of antivenom according to current regulations. She presented transient vagal reaction and subsequent transient pain in the cervical region that radiates to the sacral region. At discharge, there are no data compatible with scorpion sting poisoning. Conclusions. Transient pain in the cervical region to the sacral region may be secondary to an anxiety crisis, hypersensitivity to IgG, or secondary reaction to administration in less time than recommended by the provider. The benefit was greater than the reactions that occurred.

Sign in / Sign up

Export Citation Format

Share Document