What Is Congenital Nephrosis?
Congenital nephrosis is an inherited condition that manifests as proteinuria (protein in the urine) and edema (bodily swelling). It is most common in families of Finnish descent and manifests itself immediately after birth. Failure of the kidneys, starvation, and infection are frequent consequences of the condition. It frequently results in death before the age of five. Histopathological presentation has traditionally been used to characterize CNS, and five distinct patterns have been identified: the minimal change disease, the Finnish type, diffuse mesangial sclerosis, focal segmental glomerulosclerosis, and diffuse mesangial sclerosis.
What Is the Pathophysiology of Congenital Nephrosis?
The absence of proteins in the kidney is the primary abnormality in congenital nephrosis of the Finnish type. The Finnish variety of congenital nephrosis is caused by a mutation (alteration) in the NPHS1 gene on chromosome 19, which is responsible for nephrin, considered a type of structural protein that makes up the kidney filtration barrier. The kidney filtration barrier comprises three layers: glomerular basement membrane (GBM), capillary endothelium, podocytes with distal foot processes, and slit diaphragms (SD) interleaved. Proteinuria is caused by a deficiency in nephrin, which is bound to the slit diaphragm.
How Is Congenital Nephrosis Diagnosed?
Large-scale fluid retention and widespread edema are discovered during an examination. When using a stethoscope to listen to the heart and lungs, abnormal sounds are sometimes audible. The patient may have high blood pressure and malnutrition-related symptoms. The results of a urinalysis may show that the urine contains significant levels of protein and fat. When routinely sampling amniotic fluid, doctors can check for the disease by discovering high amounts of alpha-fetoprotein. If the screening test returns a positive result, genetic studies should be used to validate the diagnosis.
What Is the Management of Congenital Nephrosis?
Enhancing nutrition and decreasing complications are the main priorities in treating CNS in infancy and the initial stages of life to help patients reach a healthy weight and height so that the transplanting process can begin as soon as possible. These kids' nutritional control is quite difficult; thus, early specialized nutritionist involvement is required. Numerous co-morbidities put these individuals at risk of influencing their long-term performance and standard of life. Randomized controlled trials of management techniques have practically been impossible due to the low incidence of CNS. Still, long-term registry information, especially from Finland, has offered certain encouraging outcome information showing that these kids can have an excellent prognosis. Complications related to the nephrotic condition, those caused by impaired glomerular filtration rate (GFR), and those related to concurrent medical conditions, such as retinal detachment in Pierson syndrome, can be roughly categorized in terms of how they should be managed.
Controlling Edema:
Massive protein loss is a defining feature of CNS. As a result, there is troublesome edema, protein deficiency, and difficulties from losing particular proteins, such as immunoglobulins. The two most popular methods to decrease the loss of protein are as follows:
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Early bilateral nephrectomy to reduce the loss of protein, growth enhancement, and replacement therapy of the kidneys.
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Medical treatment includes Indomethacin, a non-steroidal anti-inflammatory drug, and ACE (angiotensin-converting enzymes) inhibitors, occasionally in conjunction with unilateral nephrectomy.
Bilateral Nephrectomy:
Due to Finland's significantly greater incidence, the methods and results reported there have significantly impacted many management-related elements. Early bilateral nephrectomy (removing both kidneys via surgery) has become the conventional procedure to promote growth and enable faster transplantation. This corrects the protein shortage quickly, obviates the need for continuous intravenous albumin delivery, and improves the standard of life indicators. The impact of unilateral nephrectomy on protein loss, which affects growth, and the need for continuous intravenous albumin may be less significant. This less aggressive treatment may also not resolve uremia and consequences like dyslipidemia. A differentiation between "severe" protein loss in children, which requires bilateral nephrectomy, and less severe variants of the condition has been proposed. Following nephrectomy, results indicated strong development that continued through transplantation.
Unilateral Nephrectomy:
Unilateral nephrectomy is a less drastic option than bilateral nephrectomy. Numerous case series have documented decreases in the demand for albumin infusion and a favorable effect on growth. After a year following the treatment, the additional short-term growth gains reported after bilateral nephrectomy seem to fade. Cohorts that have been reported are varied, and frequently, no individual result information is provided. Therefore, it would be wise to include genetic variation information to permit differences in any future therapy review in nephrotic syndrome. This has been verified in more recent research.
Replacement of Albumin and Medical Care:
One of the main characteristics of the nephrosis is the onset of edema. The fundamental component of early therapy is the administration of human albumin solution. The regularity of these infusions imposes an enormous strain on the affected child's family, especially if delivery must take place in a hospital setting. The administration of intravenous (IV) albumin in the house by family members can help reduce some of the quality of life difficulties without raising the risk of negative side effects.
An intentional decrease in the flow of blood through the kidneys caused by the use of ACE inhibitors and PG (prostaglandin) inhibitors, such as Indomethacin, results in a reduction in protein loss by lowering intraglomerular pressure and may lessen the need for albumin infusions. Medical management may include immunosuppressive treatment studies. Corticosteroids and then, frequently, calcineurin inhibitors, such as Cyclosporine, are used as part of the usual treatment for idiopathic nephrotic syndrome.
Overall, two major management strategies are still in place. Bilateral nephrectomy, with prompt consideration of organ transplantation, particularly for individuals with extreme conditions or considerable cancerous risk. In conjunction with ACE inhibitors, Indomethacin, and enhanced supportive kidney treatment, unilateral nephrectomy is a medical anti-proteinuric method.
Transplantation:
For a large percentage of people with congenital nephrosis, transplantation is primarily curative. However, various pre-and post-transplant parameters, such as sufficient development to accommodate a graft and extremely attentive tracking and control in the initial post-transplant stage, notably graft vascular thrombus, are necessary for long-term graft survivability.
Nutrition and Development:
Congenital nephrosis is innately capable of developing protein deficiency. When the diagnosis becomes apparent, a specialized pediatric dietician must be brought in to care for these individuals. The fundamentals of nutritional management include a high-calorie and protein diet and fluid and salt restriction. Proper planning of supplemental feeding, such as nasogastric tube feeding or gastrostomy, is crucial to ensure appropriate nutrition from the very beginning. Obtaining a healthy weight and height level where they can get a transplant while reducing their morbidity and death is the main goal for these patients.
Conclusion:
Congenital nephrosis is a condition that appears within three months after birth. Some cases of congenital nephrosis may be successfully managed with early and vigorous therapy, such as early kidney transplantation. However, the majority of cases result in death within the first year.
