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Congenital nephrotic syndrome of Finnish type. Study of 75 patients
Insights
Congenital nephrotic syndrome (CNS) of Finnish type is a severe kidney disease. This study identified 75 cases in Finland, showing a high incidence and poor prognosis, with most infants dying before six months.
Area of Science:
- Pediatric Nephrology
- Genetics
- Epidemiology
Background:
- Congenital nephrotic syndrome (CNS) of Finnish type is a rare, inherited kidney disorder.
- Characterized by massive proteinuria and a large placenta from birth.
- Leads to rapid kidney failure and is typically fatal within the first two years of life.
Purpose of the Study:
- To determine the incidence and clinical characteristics of congenital nephrotic syndrome of Finnish type in Finland.
- To document the disease's progression, mortality, and potential causes of death.
- To provide epidemiological data on this specific subtype of nephrotic syndrome.
Main Methods:
- Retrospective identification of 75 patients diagnosed with CNS of Finnish type in Finland between 1965-1973.
- Analysis of clinical data including birth presentation, disease onset, and survival.
- Review of autopsy findings for 58 cases to determine causes of death.
Main Results:
- Incidence of 12.2 per 10(5) live births.
- Hallmarks include large placenta and proteinuria from birth; full nephrotic syndrome by 2 months.
- Over 50% of patients died before 6 months; maximum survival was 2 years 3 months.
- Infection was the cause of death in 31%; 43% died from CNS itself. Large vessel thrombi noted in 11/58 autopsies.
Conclusions:
- Congenital nephrotic syndrome of Finnish type has a significant incidence in Finland.
- The disease course is severe with high early mortality.
- Further research into underlying mechanisms and potential treatments is warranted.
Abstract:
Seventy-five patients with congenital nephrotic syndrome of Finnish type were identified in Finland in the period 1965-1973, giving an incidence of 12-2/10(5). A large placenta and proteinuria from birth are the hallmarks of the disease. About one-quarter of the patients had oedema and/or abdominal distension at birth and in all cases the full nephrotic syndrome was documented before 2 months. More than half of the patients died before 6 months and none lived longer than 2 years 3 months. A slight rise in blood urea nitrogen or serum creatinine levels occurred in 14 cases, but in none of these did a frank uraemia develop before death. Infection appeared to be the immediate cause of death in 31% of the cases; in 43% no cause of death other than congenital nephrotic syndrome could be shown. Thrombi in large vessels were found in 11 out of 58 necropsies.