scholarly journals Factors of corticosteroid resistant nephrotic syndrome progression in children

2020 ◽  
Vol 22 ◽  
pp. 02026
Author(s):  
Natalya Zhuravleva ◽  
Vladimir Buryak ◽  
Sergey Horoshev ◽  
Natalya Mineeva
Keyword(s):  
Nephrotic Syndrome ◽  
Immunosuppressive Therapy ◽  
Chronic Infection ◽  
Morphological Changes ◽  
Focal Points ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Ckd Stage ◽  
Therapy Effectiveness ◽  
Disease Experience

Nephrotic syndrome (NS) is one of the most severe kidney pathologies. NS often relapses and becomes resistant to immunosuppressive therapy. In order to identify factors that prevent NS relapses development and possible increase of therapy effectiveness, we have analyzed the course nature of primary (idiopathic) and secondary frequently relapsing steroid-resistant nephrotic syndrome (FRNS) in 22 children who received immunosuppressive therapy (IS) (cyclosporin (CSA) or mycophenolic acid (MPA)). As a result of the study, the following factors of NS progression in observed children were revealed: hereditary predisposition for diseases of urinary system organs; presence of more than 5 small external abnormalities development, greater disease record, presence of herpetic infection and chronic infection focal points. In children with long disease experience, a reliably higher level of proteinuria was identified. At the time of examination, stage I chronic kidney disease was registered in most children, one in five children had stage II CKD. CKD stage was not dependent on the type of immunosuppressive therapy received (p<0.05). For children who had NS activity persistence at the time of the study, it was recommended to re-perform nephrobiopsy in order to verify morphological changes in the kidneys, correction – including the institution of alternative immunosuppressive therapy.

scholarly journals P1818CLINICAL AND MOLECULAR CHARACTERISTICS OF CHILDREN WITH WT-1-ASSOCIATED STEROID-RESISTANT NEPHROTIC SYNDROME

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Larisa Prikhodina ◽  
Zilya Bashirova ◽  
Tatjana Lepaeva ◽  
Inna Povolotskaya ◽  
Natalia Sherbakova
Keyword(s):  
Nephrotic Syndrome ◽  
Wilms Tumor ◽  
Splice Site Mutation ◽  
Molecular Characteristics ◽  
Wt1 Gene ◽  
Site Mutation ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Ckd Stage ◽  
Exon 9

Abstract Background and Aims The Wilms tumor suppressor gene 1 (WT1) (MIM 607102) has an important role in renal and gonadal development. WT1 mutations was found to be associated with a large spectrum of phenotypes with autosomal-dominant inheritance, including Wilms tumor, Denys-Drash syndrome (DDS), Frasier syndrome (FS), and isolated steroid-resistant nephrotic syndrome (SRNS). The aim of the study was to investigate clinical and molecular characteristics in children with WT1-associated SRNS. Method Retrospective analysis of phenotype and genotype of six children (3M/3F) with SRNS and heterozygous WT1 mutations was performed. Karyotypes were available in all patients. Data on renal histology had three subjects with FS. The median follow-up period was 35.5 (IQR: 20.0; 57.5) months. WT1 mutations identified by direct Sanger sequencing (n=3) and next generation sequencing (n=3). Results The median age at onset of WT1-associated SRNS was 10.0 (IQR: 5.5; 22.5) months. 4/6 (66.7%) patients presented with infantile nephrotic syndrome and 2/6 (33.3%) with SRNS. Arterial hypertension was determined in 4/6 (66.7%) of individuals. Among children with WT1-associated SRNS 3/6 (50%) patients had DDS (2M/1F) and 3/6 (50%) subjects had FS (1M/2F). Children with DDS had Wilms tumor in 2/3 (66.7%) of cases and gonadal dysgenesis with hypospadias in 1/3 (33.3%) of children. Causative mutations were identified in all three patients with DDS, including 2 earlier described c.1384C&gt;T in exon 9 and c.1098 + 1G&gt;A in intron 6 in WT1 gene, and one novel mutation с.1378Т&gt;G in exon 9. All DDS children had decreased eGFR to CKD stage 2-3 in two patients aged 7 and 11 years and ESKD in one child at the age of 2 years. All 3 patients with FS had focal segmental glomerulosclerosis on biopsy. Two phenotypic girls with FS had karyotype 46, XY and presented with pseudohermaphroditism. The same earlier described splice site mutation c.1432 + 5G&gt;A in intron 9 in WT1 gene was identified in both cases. One boy with FS had typical male chromosome pattern (46, XY) and gonadal dysgenesis. Splice site mutation c.1432 + 4C&gt;T in intron 9 in WT1 gene was found in the child. Nobody of patients with FS developed gonadoblastoma. Progression to CKD was found in all three cases with FS, including CKD stage 2-3 in two subjects aged 5 and 15 years and ESKD in one phenotypically girl with sex reversal developed at the age of 8 years. Conclusion We found that children with WT1-associated SRNS had a wide spectrum of renal and extrarenal phenotypes concerning the development of urogenital system and Wilms tumor with high risk of progression to CKD during childhood. Their phenotypes are clearly associated with the type and location of WT1 mutations led to DDS or FS. Genetic WT1 diagnostics is important in all children with SRNS for early detection, optimal treatment, tumor prevention and prognosis.

scholarly journals NPHS2 R229Q Polymorphism in Steroid Resistant Nephrotic Syndrome: Is it Responsive to Immunosuppressive Therapy?

2014 ◽  
Vol 60 (3) ◽  
pp. 231-237 ◽  
Author(s):  
O. P. Mishra ◽  
N. Kakani ◽  
A. K. Singh ◽  
G. Narayan ◽  
A. Abhinay ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Immunosuppressive Therapy ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome

A rare cause of steroid-resistant nephrotic syndrome in a child: Answers

2019 ◽  
Vol 35 (4) ◽  
pp. 621-623
Author(s):  
Lale Guliyeva ◽  
Yılmaz Tabel ◽  
Ali Düzova ◽  
Nusret Akpolat ◽  
Seza Özen ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome

Whole-Exome Sequencing Solved over 2-Decade Kidney Disease Enigma

Nephron ◽  
2021 ◽  
pp. 1-6
Author(s):  
Suramath Isaranuwatchai ◽  
Ankanee Chanakul ◽  
Chupong Ittiwut ◽  
Chalurmpon Srichomthong ◽  
Vorasuk Shotelersuk ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Kidney Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Treatment Plan ◽  
Unknown Etiology ◽  
Pediatric Case ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Whole Exome

Chronic kidney disease of unknown etiology (CKDu) has been a problem in renal practice as indefinite diagnosis may lead to inappropriate management. Here, we report a 54-year-old father diagnosed with CKDu at 33 years old and his 8-year-old son with steroid-resistant nephrotic syndrome. Using whole-exome sequencing, both were found to be heterozygous for c.737G>A (p.Arg246Gln) in LMX1B. The diagnosis of LMX1B-associated nephropathy has led to changes in the treatment plan with appropriate genetic counseling. The previously reported cases with this particular mutation were also reviewed. Most children with LMX1B-associated nephropathy had nonnephrotic proteinuria with normal renal function. Interestingly, our pediatric case presented with steroid-resistant nephrotic syndrome at 8 years old and progressed to ESRD requiring peritoneal dialysis at the age of 15 years. Our report emphasized the need of genetic testing in CKDu for definite diagnosis leading to precise management.

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