nephrotic syndrome type 23

Nephrotic syndrome type 23 (NPHS23) is an autosomal recessive renal disorder characterized by the onset of proteinuria in the first or second decade of life [2, 6, 10]. This condition is marked by high levels of protein in the urine and low levels of protein in the blood, leading to swelling [9].

The outcome for patients with NPHS23 can be variable, with some experiencing normal renal function after many years, while others may progress to chronic kidney disease [2, 6, 10]. Renal biopsy shows mesangial hypercellularity, consistent with minimal change disease, focal segmental glomerulosclerosis (FSGS), or other conditions [10].

NPHS23 is a rare form of nephrotic syndrome, and its exact prevalence is not well established. However, it is considered to be an autosomal recessive disorder, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to express the condition [15].

Nephrotic syndrome type 23 (NPHS23) is a rare kidney disorder characterized by the onset of proteinuria in the first or second decade of life [8]. The signs and symptoms of NPHS23 are similar to those of other forms of nephrotic syndrome, but may also include:

• Puffiness around the eyes, characteristically in the morning [7]
• Pitting edema over the legs
• Fluid in the pleural cavity causing pleural effusion

In addition to these symptoms, individuals with NPHS23 may also experience fatigue and loss of appetite [6]. It's worth noting that NPHS23 is an autosomal recessive renal disorder, which means it is inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

It's also important to note that the symptoms of nephrotic syndrome type 23 can vary in severity and may not be present at birth, but rather develop later in childhood or adolescence [8].

References: [6] Sep 26, 2023 — Adults can present with dependent edema. Fatigue and loss of appetite are common symptoms. [7] Signs and symptoms · Puffiness around the eyes, characteristically in the morning. · Pitting edema over the legs. · Fluid in the pleural cavity causing pleural ... [8] Feb 24, 2021 — Nephrotic syndrome type 23 (NPHS23) is an autosomal recessive renal disorder characterized by the onset of proteinuria in the first or second decade of life.

Based on the provided context, it appears that Nephrotic Syndrome Type 23 (NPHS23) is an autosomal recessive renal disorder characterized by the onset of proteinuria in the first or second decade of life. The treatment for this condition involves addressing the underlying cause and managing symptoms.

Treatment Options:

• Corticosteroids are not specifically mentioned as a treatment option for NPHS23, but corticosteroids are the mainstay of treatment for idiopathic nephrotic syndrome in children (Search Result 4).
• There is no specific mention of drug treatment options for NPHS23. However, pharmacologic interventions aiming at the attenuation of proteinuria in genetic causes of SRNS are discussed in a review article (Search Result 7).

General Treatment Approach:

• The general approach to treating nephrotic syndrome involves addressing the underlying cause and managing symptoms such as high blood pressure, high cholesterol, swelling, and infection risks (Search Result 9).
• Renin-angiotensin system inhibitors, diuretics, anticoagulation, and infection prophylaxis are recommended for the management of chronic kidney disease in nephrotic syndrome (Search Result 8).

Gene Therapy:

• A novel tool for predicting disease progression and treatment response in nephrotic syndrome has been developed, which may offer new hope to patients with idiopathic nephrotic syndrome (Search Result 13).
• Gene therapy shows potential in treating nephrotic syndrome (Search Result 13).

It is essential to consult a healthcare professional for personalized advice on the treatment of NPHS23. The information provided above is based on general knowledge and may not be specific to this condition.

References:

[6] Nephrotic syndrome type 23 (NPHS23) is an autosomal recessive renal disorder characterized by the onset of proteinuria in the first or second decade of life. [7] This review will discuss treatment options including pharmacologic interventions aiming at the attenuation of proteinuria in genetic causes of SRNS. [8] Recommendations for the management of CNS, including the use of renin–angiotensin system inhibitors, diuretics, anticoagulation and infection prophylaxis. [9] Nephrotic syndrome requiring chronic treatment: Nephrotic syndrome to be treated by steroid or immunosuppressive agents over 2 years ... [13] A novel tool for predicting disease progression and treatment response in nephrotic syndrome.

Based on the context provided, here are some potential differential diagnoses for nephrotic syndrome:

1. Minimal Change Disease (MCD): This is a common cause of nephrotic syndrome in children and adults, characterized by normal kidney biopsy findings despite heavy proteinuria.
2. Focal Segmental Glomerulosclerosis (FSGS): A leading cause of nephrotic syndrome in adults, FSGS is characterized by scarring of some glomeruli on kidney biopsy.
3. Membranous Nephropathy: An autoimmune disease that causes damage to the glomerular basement membrane, leading to heavy proteinuria and hypoalbuminemia.
4. Diabetic Nephropathy: A complication of diabetes mellitus that can cause nephrotic syndrome due to damage to the kidneys' filtering units (glomeruli).
5. Amyloidosis: A rare condition where abnormal proteins accumulate in the kidneys, leading to nephrotic syndrome and other systemic symptoms.
6. Light Chain Amyloidosis: A type of amyloidosis caused by overproduction of light chain immunoglobulins, which can lead to nephrotic syndrome and kidney failure.
7. Membranoproliferative Glomerulonephritis (MPGN): A rare disease characterized by thickening and proliferation of the glomerular basement membrane, leading to nephrotic syndrome and other systemic symptoms.
8. Goodpasture Syndrome: An autoimmune disease that causes damage to the kidneys' filtering units (glomeruli) and can lead to nephrotic syndrome.
9. Rapidly Progressive Glomerulonephritis (RPGN): A rare and severe form of kidney inflammation that can cause rapid deterioration of kidney function, including nephrotic syndrome.
10. Sjögren's Syndrome: An autoimmune disease that can cause nephrotic syndrome due to damage to the kidneys' filtering units (glomeruli).

Please note that this is not an exhaustive list, and other conditions may also be considered in the differential diagnosis of nephrotic syndrome.