scholarly journals Novel Mutations in NPHS2 Detected in Both Familial and Sporadic Steroid-Resistant Nephrotic Syndrome

2002 ◽  
Vol 13 (2) ◽  
pp. 388-393 ◽  
Author(s):  
Stephanie M. Karle ◽  
Barbara Uetz ◽  
Vera Ronner ◽  
Lisa Glaeser ◽  
Friedhelm Hildebrandt ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Positional Cloning ◽  
Mutational Analysis ◽  
Causative Gene ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Stage Renal Disease ◽  
End Stage

ABSTRACT. Autosomal recessive steroid-resistant nephrotic syndrome (SRINS) belongs to the heterogeneous group of familial nephrotic syndrome and represents a frequent cause of end-stage renal disease in childhood. This kidney disorder is characterized by early onset of proteinuria, progression to end-stage renal disease, and histologic findings of focal segmental glomerulosclerosis, minimal change nephrotic syndrome, or both. A causative gene, NPHS2, has been mapped to chromosome 1q25-q31 and was recently identified by positional cloning. This study reports five novel NPHS2 mutations: A284V, R196P, V290M, IVS4-1G→T, and 460-467insT in 12 (46%) of 26 multiplex families and in 7 (28%) of 25 single patients with the clinical diagnosis of a SRINS. Because NPHS2 mutations were found in nearly 30% of these patients with “sporadic” SRINS, mutational analysis should also be performed in these patients. Besides better classification of the disease entity, identification of NPHS2 mutations may save some of these patients from unnecessary steroid treatment and also permit the prediction of absence of disease recurrence after kidney transplantation.

The New Compound Heterozygous Mutation of NUP Nephropathy: Report of Two Cases and Literature Review

2021 ◽  
Author(s):  
Yuxin Pei ◽  
Liping Rong ◽  
Mengjie Jiang ◽  
Zhilang Lin ◽  
Cheng Cheng ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Literature Review ◽  
End Stage Renal Disease ◽  
Compound Heterozygous ◽  
Founder Mutations ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Renal Manifestation ◽  
Stage Renal Disease ◽  
End Stage

Abstract Backgrounds: NUP nephropathy is identified as a rare monogenic cause of steroid-resistant nephrotic syndrome recently. To explore the relationship between NUP mutation and renal disorders, we provide two cases and a literature review of the genotypical and phenotypical features in patients with NUP nephropathy.Results: We reported two patients with newly diagnosed NUP nephropathy who carried a compound heterozygous mutations in NUP107 and NUP93 gene respectively. Both patients were diagnosed steroid-resistant nephrotic syndrome and progressed to end-stage renal disease in childhood. While the mutation c.1537+1G>A in NUP93 gene was previously described, the mutations c.460A>G and c.1085C>T in NUP107 gene and c.1472A>T in NUP93 gene were novel. We also summarized the phenotypic and genetic spectrum of NUP nephropathy in eighty-six reported patients who carried 50 different mutations in 6 NUP genes (NUP107, NUP93, NUP205, NUP85, NUP133, NUP160). The majority of them were Asians (66/86, 76.7%). The mutation c.2492A>C and c.1079-1083del in NUP107 had been identified as the founder mutations in East Asian[1-3], while c.1772G>T and c.1886A>G in NUP93 might be the founder mutations in Western Europe and Turkish respectively. Nephrotic syndrome was the most common renal manifestation (68/86, 79.1%). Although the renal prognosis was poor that 80.8% (59/73) of them developed end-stage renal disease within the first two decades, the outcome of renal transplantation in NUP nephropathy is better than patients with other steroid-resistant nephrotic syndrome. Focal segmental glomerulosclerosis was the most prevalent renal biopsy pathologic type (56/65, 86.1%). Various extra-renal manifestations were found in 44.8% (26/58) of patients. Neurological involvement was the most common extra-renal presentation (22/26, 84.6%), including microcephaly (13/22, 59.1%), intellectual disability (12/22, 54.5%), and global developmental delay (10/22, 45.5%). Diverse abnormalities of the facial appearance (8/26, 30.8%), short stature (5/26, 19.2%),and contain convergent strabismus (4/26, 15.4%) had also been reported. There are significant differences in extra-renal manifestations between different genomics. Conclusions: The renal manifestation of NUP nephropathy is highly consistent that most patients suffered early-onset SRNS with FSGS. More than half of the patients had extra-renal symptom concomitantly. Asians showed potential susceptibility to NUP nephropathy. Despite the limited reports, some genotype-phenotype correlations have been gradually revealed.

scholarly journals A case report of congenital nephrotic syndrome caused by new mutations of NPHS1

2021 ◽  
Vol 49 (8) ◽  
pp. 030006052110381
Author(s):  
Zhong Li ◽  
Lanchun Zhuang ◽  
Mei Han ◽  
Feng Li
Keyword(s):  
Nephrotic Syndrome ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Treatment Plan ◽  
Congenital Nephrotic Syndrome ◽  
Immunosuppressive Drugs ◽  
Normal Function ◽  
Heterozygous Mutation ◽  
Stage Renal Disease ◽  
End Stage

Congenital nephrotic syndrome (CNS) is a rare autosomal recessive disorder that occurs in the first 0 to 3 months of life. The course of CNS is progressive, often leading to end-stage renal disease within 2 to 3 years. Most patients with CNS are resistant to glucocorticoids and immunosuppressive drugs. We report a girl aged 1 month and 20 days who was admitted to hospital with a history of abdominal distension and palpebral edema. She was diagnosed with CNS and administered a glucocorticoid (methylprednisolone) for 2 years. Targeted high-throughput next-generation sequencing showed mutations in the NPHS1 gene. She had a favorable outcome after 2 years of treatment. She has remained in complete remission for the last 6 months. From a clinical point of view, the outcome of CNS may be associated with end-stage renal disease or even death. Appropriate pharmacotherapy is beneficial to maintain a normal function and integrity of the glomerular barrier. An aggressive treatment plan is required to save the life of patients with CNS, even if a heterozygous mutation is detected by genetic analysis.

Nephrotic syndrome and end-stage renal disease with WT1 mutation detected at 3 years

1999 ◽  
Vol 13 (9) ◽  
pp. 790-791 ◽  
Author(s):  
Shuichi Ito ◽  
Masahiro Ikeda ◽  
Ayako Takata ◽  
Haruhito Kikuchi ◽  
Jun-ichi Hata ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Stage Renal Disease ◽  
End Stage ◽  
Wt1 Mutation

scholarly journals The importance of genetic study in steroid-resistant nephrotic syndrome

2019 ◽  
Vol 8 (4) ◽  
pp. 271-282 ◽  
Author(s):  
Sepideh Zununi Vahed ◽  
Hakimeh Moghaddas Sani ◽  
Sima Rajabzadeh ◽  
Ziba Nariman-Saleh-Fam ◽  
Mina Hejazian ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Current Knowledge ◽  
Gene Mutations ◽  
Therapeutic Benefit ◽  
Steroid Resistance ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Filtration Barrier ◽  
Stage Renal Disease ◽  
End Stage

Steroid-resistant nephrotic syndrome (SRNS) is a challenging clinical task. It has heterogeneous etiology and extremely variable clinical outcomes and generally progresses to end-stage renal disease (ESRD). Different gene mutations in podocyte’s slit diaphragm, mitochondria, and cytoskeleton proteins, as well as glomerular basement membrane (GBM) have been associated with SRNS. These proteins regulate the function of the glomerular filtration barrier. Advances in genetic approaches and podocytology have led to discover the SRNS-causing genes that lead to a better understanding of the drug resistance. More than 45 genetic mutations have been recognized in the hereditary form of SRNS. This review offers an update on the current knowledge of steroid resistance-causing gene mutations in podocytes. Understanding the specific genes involved in SRNS would guarantee an optimum therapeutic benefit of steroid treatment.

Renal ablation in patients with end-stage renal disease

VASA ◽  
2011 ◽  
Vol 40 (4) ◽  
pp. 308-314 ◽  
Author(s):  
Hansch ◽  
Pfeil ◽  
Neumann ◽  
Neumann ◽  
Mayer ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Uncontrolled Hypertension ◽  
Reactive Protein ◽  
Renal Embolization ◽  
Renal Ablation ◽  
Typical Finding ◽  
Stage Renal Disease ◽  
End Stage

Background: Transarterial catheter embolization of the kidneys (TAE) is a minimally invasive, image-guided procedure. In this study outcome and TAE-related complications of the patients who underwent TAE of the kidneys were evaluated retrospectively. Patients and methods: Between August 2003 and August 2009, 11 patients underwent selective percutaneous transarterial renal embolization for end stage renal disease associated with uncontrolled hypertension, nephrotic syndrome, bleeding or malignancy. TAE of renal arteries was performed using different embolization agents. Results: Successful renal embolization was possible in all 21 kidneys. All patients became anuric. Non-target embolization was not detectable. Nevertheless, all patients developed some degree of postembolization symptoms including nausea, vomiting, fever or pain. A typical finding after embolization was an increase in the C-reactive protein Conclusions: Renal embolization is rarely done but should be considered as an alternative to surgical nephrectomy in patients with end stage renal disease due to the lesser invasiveness. Our study confirms the safety and effectivity of percutaneous renal embolization in patients with ESRD. We were able to control the hypertension, nephrotic syndrome, and bleeding caused by ESRD.

scholarly journals Histologic Variants of FSGS: An Epidemiological and Pathological Perspective.

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Shaheera Shakeel ◽  
Rahma Rashid ◽  
Muhammed Mubarak
Keyword(s):  
Chronic Kidney Disease ◽  
Nephrotic Syndrome ◽  
Kidney Disease ◽  
Renal Disease ◽  
Renal Biopsy ◽  
End Stage Renal Disease ◽  
The World ◽  
Stage Renal Disease ◽  
End Stage

Focal segmental glomerulosclerosis (FSGS) is a conglomerate of glomerular pathological lesions unified by the segmental distribution of proliferative, sclerosing or collapsing lesions in less than 50% of glomeruli (i.e., focal distribution) in the early stages of the process and can only be diagnosed on renal biopsy. Epidemiologically, FSGS has acquired the top position among the causes of nephrotic syndrome (NS) in adults in many parts of the world and has emerged as the main cause of chronic kidney disease (CKD) and end-stage renal disease (ESRD) worldwide. Numerous approaches have been used to classify this lesion, but all have merits and demerits and no one system is entirely satisfactory. One of the popular schemes for the classification is based on morphological features and distribution of the lesions in the glomeruli, the so-called Columbia classification of FSGS. In this review, we briefly summarize the relevant epidemiology and pathology of FSGS variants in the light of our own experience with the use of this classification.

Frasier syndrome diagnosed in a 4-year-old girl

Open Medicine ◽  
2012 ◽  
Vol 7 (2) ◽  
pp. 142-144
Author(s):  
Biljana Miloševic ◽  
Radovan Bogdanović ◽  
Mirjana Kostić ◽  
Vesna Stojanović
Keyword(s):  
End Stage Renal Disease ◽  
Gonadal Dysgenesis ◽  
Frasier Syndrome ◽  
Post Transplantation ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Proliferative Disease ◽  
Stage Renal Disease ◽  
End Stage ◽  
Male Genotype

AbstractThe authors present the case of a girl with Frasier syndrome that was diagnosed at the age of 4 years. At 3.5 years, she was diagnosed a steroid-resistant nephrotic syndrome associated with focal segmental glomerulosclerosis. The girl presented with female phenotype and male genotype (46XY) as well with gonadal dysgenesis. Genetic analysis confirmed the +2T>C mutation in the intron 9 of the WT1 gene. She developed end-stage renal disease at 14 years, culminating in renal transplantation. The liver biopsy revealed a post-transplantation lymph-proliferative disease.

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