nephrotic syndrome type 10

Nephrotic Syndrome Type 10: A Rare Primary Glomerulopathy

Nephrotic syndrome type 10 (NPHS10) is a rare primary glomerulopathy characterized by severe kidney damage, leading to excessive loss of protein in the urine. This condition presents with a range of symptoms, including:

• Edema: Severe swelling, particularly around the eyes and in the ankles and feet [4]
• Proteinuria: High amounts of protein in the urine, which can lead to hypoalbuminemia (low albumin levels in the blood) [6]
• Hypoalbuminemia: Low levels of albumin in the blood, which can cause swelling and weight gain [4]

Causes and Genetics

NPHS10 is caused by mutations in the EMP2 gene on chromosome 16p13. These genetic alterations lead to an absence of response to initial treatment with steroid medication [2]. The condition is often inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Characteristics and Treatment

NPHS10 is characterized by its resistance to treatment with steroid medication. Patients may experience:

• Proteinuria: High amounts of protein in the urine
• Hypoalbuminemia: Low levels of albumin in the blood
• Edema: Severe swelling, particularly around the eyes and in the ankles and feet [4]
• Weight gain: Due to fluid retention [4]

Treatment for NPHS10 typically involves medications that address its symptoms, such as:

• Steroid-sparing agents: To reduce proteinuria and prevent further kidney damage
• Diuretics: To manage edema and fluid retention
• Protein supplements: To increase albumin levels in the blood [6]

References

[1] Nephrotic syndrome type 10 (NPHS10) is caused by homozygous or compound heterozygous mutation in the EMP2 gene on chromosome 16p13. [2] A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks. [3] Severe swelling (edema), particularly around your eyes and in your ankles and feet · Foamy urine, a result of excess protein in your urine · Weight gain due to fluid retention. [4] A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of steroid therapy. [5]

Nephrotic syndrome type 1, also known as minimal change disease, is a common cause of nephrotic syndrome in children and adults. The signs and symptoms of nephrotic syndrome type 1 are similar to those of other types of nephrotic syndrome.

Common Symptoms:

• Swelling (edema) in the legs, ankles, feet, lower abdomen, or other parts of the body [3]
• Foamy urine due to excess protein loss in the urine [3]
• Puffy eyelids and swelling around the eyes is a common sign in children [5]
• Loss of appetite
• A general feeling of illness (malaise)
• Weight gain
• Increased appetite
• Red cheeks
• Mood changes

Other Possible Symptoms:

• High amounts of protein in your urine and low amounts of protein in your blood [1]
• Too much fat or cholesterol in your blood [2]
• Swollen legs and foamy urine may indicate nephrotic syndrome [4]

It's essential to note that these symptoms can vary from person to person, and not everyone with nephrotic syndrome type 1 will experience all of them. If you suspect you or a loved one has nephrotic syndrome, consult a healthcare professional for proper diagnosis and treatment.

References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5

Based on the provided context, it appears that you are looking for diagnostic tests related to Nephrotic Syndrome, specifically with a reference to ICD-9 code 10.

According to the search results, the diagnosis of Nephrotic Syndrome is typically confirmed through laboratory tests, including:

• Urine tests to measure proteinuria and hypoalbuminemia [2][4]
• Blood tests to confirm hypoalbuminemia and other related conditions [3][5][7][9]

However, it seems that there might be some confusion with the reference to ICD-9 code 10. Upon reviewing the search results, it appears that ICD-9 code 10 is actually related to diagnostic procedures on the conjunctiva, not Nephrotic Syndrome.

If you are looking for diagnostic tests specifically related to Nephrotic Syndrome, I would recommend focusing on the laboratory tests mentioned earlier, such as urine and blood tests. These tests can help confirm the presence of nephrotic-range proteinuria, hypoalbuminemia, and other related conditions [2][4][7][9].

If you have any further questions or clarification regarding this topic, please let me know!

Nephrotic syndrome (NS) type 10, also known as idiopathic membranous nephropathy, is a rare and complex kidney disease that requires careful management.

Treatment Overview

The primary goal of treatment for NS type 10 is to reduce proteinuria (excess protein in the urine), manage edema (swelling), and slow disease progression. While there is no cure for this condition, various medications can help alleviate symptoms and improve quality of life.

• Corticosteroids: Corticosteroids, such as prednisolone, are often used to reduce inflammation and suppress the immune system. They may be prescribed alone or in combination with other immunosuppressive agents (e.g., cyclosporine) [2].
• Immunosuppressive Agents: Alternative immunosuppressive agents, like rituximab, may be considered for patients who do not respond to corticosteroids or have severe disease [7]. These medications can help reduce proteinuria and slow disease progression.
• Diuretics: Diuretics, such as loop diuretics (e.g., furosemide) or spironolactone, are used to manage edema associated with NS type 10 [8].
• ACE Inhibitors/ARBs: Angiotensin-converting enzyme inhibitors (ACEIs) or angiotensin receptor blockers (ARBs), such as enalapril or losartan, may be recommended to reduce proteinuria and slow disease progression [4].

Treatment Considerations

It's essential to note that treatment for NS type 10 should be individualized based on the patient's specific needs and response to therapy. Regular monitoring of kidney function, proteinuria, and edema is crucial to adjust treatment plans as needed.

References:

[1] Sep 26, 2023 — For children with idiopathic nephrotic syndrome, corticosteroids are the mainstay of treatment. [2] Primary nephrotic syndrome. Corticosteroids. Corticosteroids, or steroids, are the medicines most often used to treat children with primary nephrotic syndrome. [4] by C KODNER · 2016 · Cited by 159 — Treatment with angiotensin-converting enzyme inhibitors or angiotensin receptor blockers is often recommended for patients with NS because of ... [7] by A Sinha · 2013 · Cited by 120 — Rituximab offers an alternative to current immunosuppressive therapies for difficult-to-treat nephrotic syndrome. [8] Aug 20, 2013 — Diuretics: Edema associated with NS is treated pharmacologically with loop diuretics (TABLE 2) or spironolactone (25-200 mg/day orally divided ...

Based on the provided context, here are some potential differential diagnoses for Nephrotic Syndrome:

• Minimal Change Nephropathy: This is a common cause of nephrotic syndrome in children and young adults. It is characterized by heavy proteinuria and normal kidney function (1).
• Focal Segmental Glomerulosclerosis (FSGS): FSGS is another leading cause of nephrotic syndrome, particularly in adults. It is characterized by scarring in some glomeruli, which can lead to heavy proteinuria (2).
• Membranous Nephropathy: This is a type of kidney disease that can cause nephrotic syndrome. It is characterized by the deposition of immune complexes on the basement membrane of the glomeruli, leading to heavy proteinuria (5).
• Diabetic Nephropathy: In people with diabetes, high blood sugar levels can damage the kidneys and lead to nephrotic syndrome (2).
• Acute Kidney Injury (AKI): AKI can sometimes present with symptoms similar to nephrotic syndrome, including heavy proteinuria (4).
• Other rare causes: There are several other rare conditions that can cause nephrotic syndrome, including Denys-Drash syndrome, Pierson syndrome, Galloway-Mowat syndrome, and Schimke immuno-osseous dysplasia (8).

It's worth noting that the differential diagnosis of nephrotic syndrome can vary depending on the age and underlying health status of the individual. A thorough medical evaluation is necessary to determine the correct diagnosis.

References: [1] [2] [5] [8]