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nephrotic syndrome type 19

Description

Nephrotic Syndrome Type 19 (NPHS19) Description

Nephrotic syndrome type 19, also known as NPHS19, is a rare and hereditary disease that affects the renal glomerular filter. It is characterized by:

  • Proteinuria: High levels of protein in the urine
  • Hypoalbuminemia: Low levels of albumin (a type of protein) in the blood
  • Edema: Swelling, particularly in the legs and feet
  • Hyperlipidemia: Elevated levels of lipids (fats) in the blood

This condition is primarily caused by genetic mutations, specifically in the NUP160 gene. It is a progressive disorder that can manifest at any age, but often presents in the first or second decade of life.

According to some reports, there have been cases where this condition has presented in utero or during the first 3 months of life, indicating its congenital nature.

Overall, nephrotic syndrome type 19 is a rare and serious kidney disease that requires prompt medical attention.

Additional Characteristics

  • Proteinuria: High levels of protein in the urine
  • Hypoalbuminemia: Low levels of albumin (a type of protein) in the blood
  • Edema: Swelling, particularly in the legs and feet
  • Hyperlipidemia: Elevated levels of lipids (fats) in the blood

Signs and Symptoms

Common Signs and Symptoms of Nephrotic Syndrome

Nephrotic syndrome, a kidney disorder characterized by excessive loss of protein in the urine, can manifest with various symptoms. Here are some common signs and symptoms associated with this condition:

  • Swelling: Swollen legs, ankles, feet, lower abdomen, or other parts of your body due to fluid retention [1].
  • Foamy Urine: Presence of foam or froth in the urine, indicating excessive protein loss [2].
  • Weight Loss: Unexplained weight loss despite increased appetite [5].
  • General Malaise: Feeling unwell, which can be a result of various factors including kidney dysfunction [4].
  • Oedema (Fluid Retention): Swelling due to fluid accumulation in the body spaces [7].

Additional Symptoms

In some cases, nephrotic syndrome may also present with:

  • Weight Gain: Increased appetite leading to weight gain [5].
  • Red Cheeks: Facial flushing or redness [5].
  • Mood Changes: Emotional changes, which can be a result of the underlying condition or its treatment [5].

Important Note

It's essential to consult a healthcare professional for an accurate diagnosis and proper management of nephrotic syndrome. They will assess your overall health, perform necessary tests, and provide personalized guidance on treatment options.

References: [1] - Search Result 8 [2] - Search Result 4 [3] - Not applicable (no relevant information) [4] - Search Result 4 [5] - Search Result 5 [6] - Not applicable (no relevant information) [7] - Search Result 7

Additional Symptoms

  • Increased appetite leading to weight gain
  • Swollen legs, ankles, feet, lower abdomen, or other parts of your body due to fluid retention
  • Presence of foam or froth in the urine, indicating excessive protein loss
  • Unexplained weight loss despite increased appetite
  • Feeling unwell, which can be a result of various factors including kidney dysfunction
  • Swelling due to fluid accumulation in the body spaces
  • Facial flushing or redness
  • Emotional changes, which can be a result of the underlying condition or its treatment

Diagnostic Tests

Diagnostic Tests for Nephrotic Syndrome Type 19

Nephrotic syndrome type 19 (NPHS19) is a disease that affects the renal glomerular filter, leading to proteinuria, edema, and hypoalbuminemia. To diagnose this condition, several diagnostic tests can be performed.

Urine Tests

  • Urine tests are essential in diagnosing nephrotic syndrome type 19. These tests show if you are losing too much protein in your urine, which is a characteristic of the disease [3].
  • The urine tests may also appear frothy and foamy due to the excessive protein loss [7].

Blood Tests

  • Blood tests can be used to estimate the glomerular filtration rate (GFR) and check for other abnormalities related to kidney function [7].
  • These tests are often performed in conjunction with urine tests to establish a comprehensive diagnosis.

Genetic Testing

  • Genetic testing, such as exome sequencing with CNV detection, can be used to identify the underlying genetic cause of nephrotic syndrome type 19 [5].

Kidney Biopsy

  • A kidney biopsy may be performed to examine the tissue and confirm the diagnosis of nephrotic syndrome type 19. The biopsy results often show focal segmental glomerulosclerosis [6].

Other Diagnostic Tests

  • Other diagnostic tests, such as imaging studies (e.g., ultrasound or CT scans), genetic testing, and histologic findings from a kidney biopsy, may also be performed to confirm the diagnosis of nephrotic syndrome type 19 [8][9].

It's essential to consult with a healthcare professional for an accurate diagnosis and treatment plan.

Additional Diagnostic Tests

  • Blood Tests
  • Urine Tests
  • Kidney Biopsy
  • Other Diagnostic Tests
  • Genetic Testing

Treatment

Nephrotic Syndrome Type 19, also known as NPHS19, is a rare and severe form of kidney disease characterized by proteinuria, edema, and hypoalbuminemia. Unfortunately, it does not respond to conventional drug treatment [2].

According to medical literature, the lack of effective treatment options for NPHS19 means that patients inevitably progress to end-stage renal disease, requiring dialysis or renal transplantation for survival [4]. This is a serious concern, as it significantly impacts the quality of life and long-term prognosis for individuals affected by this condition.

It's worth noting that researchers are continually exploring new therapeutic approaches to manage NPHS19. However, at present, there is no established drug treatment protocol specifically targeting this disease type [2].

References: [1] Not applicable [2] Context result 2: "NPHS19, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and..." [3] Not applicable [4] Context result 4: "It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival."

Recommended Medications

  • NPHS19 does not respond to conventional drug treatment
  • There is no established drug treatment protocol specifically targeting this disease type

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Based on the provided context, here are some potential differential diagnoses for nephrotic syndrome type 19:

  • Minimal Change Nephropathy: This is a common cause of nephrotic syndrome in children and adults, characterized by normal kidney biopsy findings despite heavy proteinuria (1).
  • Focal Segmental Glomerulosclerosis (FSGS): FSGS is another leading cause of nephrotic syndrome, particularly in adults. It is characterized by scarring in some glomeruli on kidney biopsy (2).
  • Membranous Nephropathy: This is a type of glomerulonephritis that can present with nephrotic-range proteinuria and is often associated with autoimmune disorders or cancer (3).
  • Diabetic Nephropathy: In people with diabetes, nephrotic syndrome can be caused by diabetic nephropathy, which is characterized by damage to the kidneys' filtering units due to high blood sugar levels (4).

It's also worth noting that other rare conditions such as Denys-Drash syndrome, Pierson syndrome, Galloway-Mowat syndrome, and Schimke immuno-osseous dysplasia can present with nephrotic syndrome in children (5).

References:

  • [1]
  • [2]
  • [3]
  • [4]
  • [5]

Additional Information

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Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.

It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.