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 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.

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.

scholarly journals Continuous ambulatory peritoneal dialysis (CAPD) therapy for an end-stage renal disease (ESRD) patient with nephrotic syndrome

2003 ◽  
Vol 36 (9) ◽  
pp. 1453-1456
Author(s):  
Yoko Uchiyama ◽  
Hiroya Masaki ◽  
Takanobu Imada ◽  
Noriko Kishimoto ◽  
Masayoshi Fukui ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Peritoneal Dialysis ◽  
Renal Disease ◽  
Continuous Ambulatory Peritoneal Dialysis ◽  
End Stage Renal Disease ◽  
Esrd Patient ◽  
Stage Renal Disease ◽  
End Stage

scholarly journals Relevance of VEGF and Nephrin Expression in Glomerular Diseases

2011 ◽  
Vol 2011 ◽  
pp. 1-9 ◽  
Author(s):  
Claudia A. Bertuccio
Keyword(s):  
Nephrotic Syndrome ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Molecular Mechanisms ◽  
Plasma Albumin ◽  
Glomerular Filtration Barrier ◽  
Glomerular Diseases ◽  
Filtration Barrier ◽  
Stage Renal Disease ◽  
End Stage

The glomerular filtration barrier is affected in a large number of acquired and inherited diseases resulting in extensive leakage of plasma albumin and larger proteins, leading to nephrotic syndrome and end-stage renal disease. Unfortunately, the molecular mechanisms governing the development of the nephrotic syndrome remain poorly understood. Here, I give an overview of recent investigations that have focused on characterizing the interrelationships between the slit diaphragm components and podocytes-secreted VEGF, which have a significant role for maintaining the normal podocyte structure and the integrity of the filtering barrier.

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