Genetics of congenital and infantile nephrotic syndrome

Sharief, Sara Nawfal; Hefni, Nada Abdullatif; Alzahrani, Walaa A; Nazer, Iman Ibrahim; Bayazeed, Marwa Abdullah; Alhasan, Khalid; Safdar, Osama Y; El-Desoky, Sherif M.; Kari, Jameela A.

doi:10.1007/s12519-018-00224-0

Cited by 18 publications

(8 citation statements)

References 23 publications

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“…Previous literature reports that most CNS is caused by genetic mutations. The most common causative gene is the NPHS1 gene (18, 19). There are few reports on genotype analysis of children with CNS in China.…”

Section: Discussionmentioning

confidence: 99%

Analysis of 14 Patients With Congenital Nephrotic Syndrome

et al. 2019

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From January 1995 to June 2018, 14 patients with congenital nephrotic syndrome (CNS) were diagnosed in the Department of Pediatrics, Peking University First Hospital. The clinical data were retrospectively studied. Eight patients underwent genetic testing; 7 of them had NPHS1 mutations (primary CNS), and 1 did not have a mutation. Of the 7 patients with NPHS1 mutations, 6 died, and 1 had proteinuria. Of the 14 patients, 8 had cytomegalovirus (CMV) infection, and anti-CMV therapy was administered to 7 of them. The other patient was hospitalized in critically ill condition and died before anti-CMV therapy administration. Of the 7 patients who were administered anti-CMV therapy, proteinuria disappeared in 2 patients; 2 patients died; 2 patients were lost to follow up; and 1 patient still had 3+ proteinuria. Three patients had both NPHS1 mutations and CMV infection. After anti-CMV therapy, proteinuria was resolved in 1 patient but relapsed to 3+ proteinuria due to a new infection. The other 2 patients died. Of 14 patients, only 1 patient underwent renal biopsy, with results showing mesangial proliferative glomerulonephritis pathology, negative CMV inclusion body, and CMV-DNA. In this study, genetic defect could play a primary role in CNS, and CMV could play a secondary role. Primary CNS with NPHS1 mutations has a poor prognosis. Primary CNS might be accompanied by CMV infection that responds poorly to antiviral treatment. Secondary CNS caused by CMV infection may be cured with antiviral therapy. However, genetic analysis is necessary to exclude genetic defects.

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Section: Discussionmentioning

confidence: 99%

Analysis of 14 Patients With Congenital Nephrotic Syndrome

et al. 2019

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“…Hypothyroidism, on the other hand, is commonly associated with nephrotic syndrome due to the loss of thyroid-binding globulin in urine as part of the disease pathology [9]. Moreover, the degree of hypothyroidism correlates with the degree of proteinuria and hypoalbuminemia [4]. This might explain our patient's recovery from hypothyroidism.…”

Section: Discussionmentioning

confidence: 67%

“…Lemley reported a case of heterozygous NPHS1 mutation in a patient with mild disease who achieved partial remission with low doses of ACE (angiotensin-converting enzyme) inhibitor and indomethacin [11]. In Saudi Arabia, due to the high prevalence of consanguinity, around 90% of patients diagnosed with CNS have underlying causative mutations with the NPHS1 gene [4].…”

Section: Discussionmentioning

confidence: 99%

“…Rarely, spontaneous remission of the condition might be seen. However, none of them could identify a predictive factor for the remission [4,7,8].…”

Section: Discussionmentioning

confidence: 99%

“…Finnish-type CNS usually results from a monogenic mutation in the NPHS1, which form the glomerular filtration barrier [ 1 - 3 ]. This gene is the most common gene among the Saudi population that causes CNS according to multiple studies performed in different regions of the kingdom [ 4 ]. Disruption of normal glomerular filtration results in urinary protein loss, leading to the development of the syndrome's triad [ 1 - 3 ].…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Congenital Nephrotic Syndrome With a Novel Presentation in Saudi Arabia

Alhassan

AlKadhem

Alkhalifah

et al. 2020

Cureus

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Congenital nephrotic syndrome (CNS) is a rare and serious entity of renal diseases diagnosed in infants younger than three months. The triad of this syndrome is proteinuria, hypoalbuminemia, and edema. Without renal transplantation, these patients rarely live beyond the age of three years. Infections and sepsis are the most common causes of this condition among children. The majority of patients progress to end-stage renal disease early in life, even with aggressive supportive therapy. In this study, we present a case of a 10-year-old Saudi boy who had been diagnosed with CNS since he was two months old and has improved without renal transplantation.

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Prenatal Diagnosis of Neural Tube Defects

Milunsky

2021

Genetic Disorders and the Fetus

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Genetics of congenital and infantile nephrotic syndrome

Cited by 18 publications

References 23 publications

Analysis of 14 Patients With Congenital Nephrotic Syndrome

Analysis of 14 Patients With Congenital Nephrotic Syndrome

Congenital Nephrotic Syndrome With a Novel Presentation in Saudi Arabia

Prenatal Diagnosis of Neural Tube Defects

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