Unilateral nephrectomy for young infants with congenital nephrotic syndrome of the Finnish type

Murakoshi, Miki; Kamei, Koichi; Ogura, Masao; Mai, Sabine; Nada, Taishi; Suzuki, Rikako; Kamae, Chikako; Nishi, Kentaro; Kanamori, Toru; Nagano, China; Nozu, Kandai; Nakanishi, Koichi; Iijima, Kazumoto

doi:10.1007/s10157-021-02141-5

Cited by 3 publications

(3 citation statements)

References 24 publications

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“…Patients with mild proteinuria may require unilateral nephrectomy to facilitate proteinuria and albumin replacement, and patients with severe proteinuria may require bilateral nephrectomy. 4,5,15 A recent study by Murakoshi et al 16 found that unilateral nephrectomy reduced proteinuria and shortened hospitalization with CNS. Recent reports showed that bilateral nephrectomy could cause life-threatening complications such as hypotension, infections and this rate was similar in the conservative approach.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of Clinical and Follow-up Results of Patients with Congenital Nephrotic Syndrome

2021

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Congenital nephrotic syndrome (CNS) is characterized by severe proteinuria, hypoalbuminemia, and edema within the first three months of life. Congenital nephrotic syndrome can occur due to perinatal infections or mutation of genes encoding structural or regulatory proteins of the glomerular filtration barrier. Treatment includes albumin infusions, nephrectomy, dialysis, and transplantation. In this study, we aimed to evaluate the demographic, clinical, and follow-up results of patients with CNS followed up in our center between 2010 and 2020. Demographic, clinical, laboratory values of 8 patients diagnosed with CNS between 2010 and 2020, kidney biopsy results, genetic examinations, and follow-up results were retrospectively evaluated. A total of 8 patients (4 girls) were included in this study. The median age at diagnosis was 36 days (3 days-8 months) and the follow-up period was 34 months (7-114 months). There was a history of prematurity and consanguinity in 5 patients. Edema was detected at the admission of all patients. Albumin infusion and captopril therapy were started from the diagnosis. No pathology was seen in the tests for perinatal infection, and ultrasonographic examinations were normal. In the genetic analysis, NPHS1 (Nephrin) homozygous mutation was detected in six patients, and coenzyme Q2 mutation was detected in one patient. Peritoneal dialysis treatment was performed in four patients during the follow-up, and unilateral nephrectomy was completed in one patient. During the follow-up, four of eight patients (three due to sepsis while on dialysis, one on the postoperative after the first day of transplantation) died. Three patients are followed up with kidney transplantation and one with supportive treatment. According to our results, most CNS cases are genetic, and nephrin mutation is the most common cause. Management of complications in CNS is crucial for patient surviva

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Section: Discussionmentioning

confidence: 99%

Evaluation of Clinical and Follow-up Results of Patients with Congenital Nephrotic Syndrome

2021

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“…Progression to kidney failure is variable but is often seen within the first three years of life [ 7 ]. Treatments are often supportive but can include early unilateral nephrectomy until the patient can undergo kidney transplantation [ 8 ]. Despite escalation in supportive care, the patient eventually required hemodialysis and a bilateral nephrectomy due to persistent massive proteinuria at two years of age.…”

Section: Discussionmentioning

confidence: 99%

A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants

Goodman,

Puapatanakul,

Barton

et al. 2024

Case Reports in Nephrology

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Congenital nephrotic syndrome is an autosomal recessive inherited disorder that manifests as steroid-resistant massive proteinuria in the first three months of life. Defects in the glomerular filtration mechanism are the primary etiology. We present a child who developed severe nephrotic syndrome at two weeks of age and eventually required a bilateral nephrectomy. Genetic testing revealed compound heterozygous variants in NPHS1 including a known pathogenic variant and a missense variant of uncertain significance. Light microscopy revealed crescent formation—an atypical finding in congenital nephrotic syndrome caused by nephrin variants—in addition to focal segmental and global glomerulosclerosis. Electron microscopy showed diffuse podocyte foot process effacement. Confocal and Airyscan immunofluorescence microcopy showed aggregation of nephrin in the podocyte cell body that is not a result of diffuse podocyte foot process effacement as seen in minimal change disease. These findings confirm the novel variant as pathogenic.

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“…Bilateral nephrectomy may also be done in preparation for a renal transplant and in patients with Denys-Drash syndrome because of a high risk for Wilms' tumor. Unilateral nephrectomy ( 6 , 13 , 26 ) along with anti-proteinuric agents is a viable alternative to bilateral nephrectomy ( 27 – 29 ), the major advantage being that it may decrease or stop the need for albumin infusions and facilitate outpatient management without an immediate need for RRT. However, in some patients, unilateral nephrectomy may not be enough, and second nephrectomy followed by dialysis may be needed ( Supplementary Table 3 ).…”

Section: Discussionmentioning

confidence: 99%

Clinical presentation and management of nephrotic syndrome in the first year of life: A report from the Pediatric Nephrology Research Consortium

Constantinescu

Mattoo²,

Smoyer³

et al. 2022

Front. Pediatr.

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Background and objectivesNephrotic syndrome (NS) in the first year of life is called congenital (CNS) if diagnosed between 0–3 months, or infantile (INS) if diagnosed between 3–12 months of age. The aim of this study was to determine if there were clinically meaningful differences between CNS and INS patients, regarding clinical presentation, management and outcomes.Design, setting, participants, and measurementsEleven Pediatric Nephrology Research Consortium sites participated in the study, using IRB-approved retrospective chart reviews of CNS and INS patients born between 1998 and 2019. Data were collected on patient characteristics, pertinent laboratory tests, provided therapy, timing of unilateral/bilateral nephrectomy and initiation of renal replacement therapy (RRT).ResultsThe study included 69 patients, 49 with CNS and 20 with INS, with a median age at diagnosis of 1 and 6 months, respectively. Management for the two groups was similar regarding nutrition, thyroxin supplementation, immunoglobulin administration, and thrombosis prophylaxis. Within the first 2 months after diagnosis, daily albumin infusions were used more often in CNS vs. INS patients (79 vs. 30%; p = 0.006), while weekly infusions were more common in INS patients (INS vs. CNS: 50 vs. 3%; p = 0.001). During the 6 months preceding RRT, albumin infusions were more frequently prescribed in CNS vs. INS (51 vs. 15%; p = 0.007). Nephrectomy was performed more often in CNS (78%) than in INS (50%; p = 0.02). End-stage kidney disease tended to be more common in children with CNS (80%) vs. INS (60%; p = 0.09).ConclusionCompared to INS, patients with CNS had a more severe disease course, requiring more frequent albumin infusions, and earlier nephrectomy and RRT. Despite center-specific variations in patient care, 20–40% of these patients did not require nephrectomy or RRT.

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Unilateral nephrectomy for young infants with congenital nephrotic syndrome of the Finnish type

Cited by 3 publications

References 24 publications

Evaluation of Clinical and Follow-up Results of Patients with Congenital Nephrotic Syndrome

Evaluation of Clinical and Follow-up Results of Patients with Congenital Nephrotic Syndrome

A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants

Clinical presentation and management of nephrotic syndrome in the first year of life: A report from the Pediatric Nephrology Research Consortium

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