Congenital Nephrotic Syndrome of the Finnish Type: A Greek Case Report

Stasinou, Sofia Melina; Valasoulis, George; Georgiou, Ioannis; Kyrgiou, Maria; Paraskevaidis, Evangelos; Plachouras, Nikolaos

doi:10.4236/health.2014.612176

Cited by 3 publications

(5 citation statements)

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“…As Finnish-type CNS is inherited in an autosomal recessive manner, the incidence in both sexes tends to be similar. 10,11 Patients with Finnish-type were diagnosed earliest because clinical manifestations of the disease, such as the enlarged placenta and the massive edema, become evident shortly after birth in most patients with Finnish-type CNS. In our study, the earliest diagnosis of age is three days, and the median age of admission was 36 days.…”

Section: Discussionmentioning

confidence: 99%

“…This may be a "mild" mutation that causes a different phenotype other than the common primary mutation or the minor mutation. [11][12][13] Fin major and minor mutations were severe and presented with early symptoms. To date, more than 200 mutations have been identified all over the world.…”

Section: Discussionmentioning

confidence: 99%

“…To date, more than 200 mutations have been identified all over the world. 10,11 Patients with NPHS1 mutations do not have extra-renal malformations, but growth retardation was the most common extra-renal symptom. 14 The present study found only short stature as extra-renal symptoms, no other urogenital, mental retardation, eye-ear, or skeletal problems.…”

Section: Discussionmentioning

confidence: 99%

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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%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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

2021

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“…Among patients with Finnish-type disease, the number of male and female patients was similar (15 and 18, respectively). As Finnish-type CNS is inherited in an autosomal recessive manner, the incidence in both sexes tends to be similar [13].…”

Section: Discussionmentioning

confidence: 99%

A cross-sectional nationwide survey of congenital and infantile nephrotic syndrome in Japan

et al. 2020

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Background: Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) cause substantial morbidity and mortality. In Japan, there is a lack of knowledge regarding the characteristics of CNS and INS. This study aimed to clarify the characteristics of CNS and INS in Japan. Methods: This cross-sectional nationwide survey obtained data from 44 institutions in Japan managing 92 patients with CNS or INS, by means of two survey questionnaires sent by postal mail. Patients aged < 16 years by 1 April 2015, with a diagnosis of CNS or INS, were included in this study. The primary outcome was end-stage kidney disease. Results: A total of 83 patients with CNS or INS were analyzed. The most frequent disease type was non-Finnish (60.2%); 33 patients (39.8%) had Finnish type. Among those with non-Finnish-type disease, 26 had no syndrome and 24 had a syndrome, of which the most frequent was Denys-Drash syndrome (70.8%). Patients with non-Finnish-type disease with syndrome showed the earliest progression to end-stage kidney disease compared with the other two groups, whereas patients with non-Finnish-type disease without syndrome progressed more slowly compared with the other two groups. In the Finnish-type group, the disease was diagnosed the earliest; a large placenta was reported more frequently; genetic testing was more frequently performed (93.8%); mental retardation was the most frequent extra-renal symptom (21.2%); and thrombosis and infection were more frequent compared with the other groups. Patients with non-Finnish-type disease with syndrome had a higher frequency of positive extra-renal symptoms (79.2%), the most common being urogenital symptoms (54.2%). Treatment with steroids and immunosuppressants was more frequent among patients with non-Finnish-type disease without syndrome. Two patients with non-Finnish-type disease without syndrome achieved complete remission. In all groups, unilateral nephrectomy was performed more often than bilateral nephrectomy and peritoneal dialysis was the most common renal replacement therapy. Conclusions: The present epidemiological survey sheds light on the characteristics of children with CNS and INS in Japan. A high proportion of patients underwent genetic examination, and patient management was in accord with current treatment recommendations and practices.

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Section: Discussionmentioning

confidence: 99%

A cross-sectional nationwide survey of congenital and infantile nephrotic syndrome in Japan

Hamasaki

Hamada

Muramatsu

et al. 2020

Preprint

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Background: Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) cause substantial morbidity and mortality. In Japan, there is a lack of knowledge regarding the characteristics of CNS and INS. This study aimed to clarify the characteristics of CNS and INS in Japan.Methods: This cross-sectional nationwide survey obtained data from 44 institutions in Japan managing 92 patients with CNS or INS by means of two survey questionnaires sent by postal mail. Patients aged <16 years by 1 April 2015, with a diagnosis of CNS or INS, were included in this study. The primary outcome was end-stage kidney disease.Results: A total of 83 patients with CNS or INS were analyzed. The most frequent disease type was non-Finnish (60.2%); 33 patients (39.8%) had Finnish type. Among those with non-Finnish-type disease, 26 had no syndrome and 24 had a syndrome, of which the most frequent was Denys–Drash syndrome (70.8%). Patients with non-Finnish-type disease with syndrome showed the earliest progression to end-stage kidney disease compared with the other two groups, whereas patients with non-Finnish-type disease without syndrome progressed more slowly compared with the other two groups. In the Finnish-type group, the disease was diagnosed the earliest; a large placenta was reported more frequently; genetic testing was more frequently performed (93.8%); mental retardation was the most frequent extra-renal symptom (21.2%); and thrombosis and infection were more frequent compared with the other groups. Patients with non-Finnish-type disease with syndrome had a higher frequency of positive extra-renal symptoms (79.2%), the most common being urogenital symptoms (54.2%). Treatment with steroids and immunosuppressants was more frequent among patients with non-Finnish-type disease without syndrome. Two patients with non-Finnish-type disease without syndrome achieved complete remission. In all groups, unilateral nephrectomy was performed more often than bilateral nephrectomy and peritoneal dialysis was the most common renal replacement therapy.Conclusions: The present epidemiological survey sheds light on the characteristics of children with CNS and INS in Japan. A high proportion of patients underwent genetic examination, and patient management was in accord with current treatment recommendations and practices.Trial registration: Not applicable.

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Congenital Nephrotic Syndrome of the Finnish Type: A Greek Case Report

Cited by 3 publications

References 10 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 cross-sectional nationwide survey of congenital and infantile nephrotic syndrome in Japan

A cross-sectional nationwide survey of congenital and infantile nephrotic syndrome in Japan

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