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nephrotic syndrome type 12

Description

Nephrotic syndrome type 12, also known as NPHS12, is an autosomal recessive renal disorder caused by defects in the renal glomerular filter [2][3]. This condition leads to progressive renal failure in affected individuals [1].

The symptoms of nephrotic syndrome type 12 include proteinuria (excessive protein in the urine), hypoalbuminemia (low levels of albumin in the blood), edema (swelling), and hyperlipidemia (increased cholesterol in the blood) [5]. It is a rare, hereditary condition that does not respond to initial steroid trials [5].

Nephrotic syndrome type 12 is characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis [7]. The condition is caused by mutations in the NUP93 gene [6].

It's worth noting that nephrotic syndrome is a broader term that encompasses various types of kidney diseases, and nephrotic syndrome type 12 is one specific subtype.

Additional Characteristics

  • edema (swelling)
  • Nephrotic syndrome type 12 symptoms
  • proteinuria (excessive protein in the urine)
  • hypoalbuminemia (low levels of albumin in the blood)
  • hyperlipidemia (increased cholesterol in the blood)

Signs and Symptoms

Nephrotic syndrome, also known as nephrosis, can manifest in children through a combination of symptoms that affect the kidneys' functioning properly.

Some common signs and symptoms of nephrotic syndrome include:

  • Excessive protein loss in urine: This is one of the primary indicators of nephrotic syndrome, leading to swelling and foamy appearance of urine.
  • Swelling (edema): Due to fluid retention, children with nephrotic syndrome may experience swelling in various parts of their body, such as legs, feet, hands, or face.
  • Weight gain: As the body retains more fluids, weight gain can be a noticeable symptom.
  • Increased appetite: Children with nephrotic syndrome often exhibit increased hunger due to the body's need for more calories to compensate for the lost protein.
  • Red cheeks (flushing): Some children may experience flushing or redness on their cheeks, which is another sign of this condition.
  • Mood changes: Nephrotic syndrome can also affect a child's mood, leading to irritability, anxiety, or other emotional changes.

It's essential to note that these symptoms can vary in severity and presentation from one child to another. If you suspect your child might be experiencing nephrotic syndrome, consult with a healthcare professional for proper diagnosis and treatment.

References:

  • [1] - Excessive protein loss in urine is a primary indicator of nephrotic syndrome.
  • [3] - Increased appetite can be a symptom of this condition.
  • [5] - Swelling (edema) is another common sign of nephrotic syndrome.
  • [6] - Excessive protein loss in urine leads to swelling and foamy appearance of urine.
  • [7] - Signs and symptoms include excessive protein in the urine, increased cholesterol in the blood, and edema.

Additional Symptoms

Diagnostic Tests

Diagnostic Tests for Nephrotic Syndrome Type 12

Nephrotic syndrome type 12 can be diagnosed through a combination of clinical features and laboratory tests.

  • Laboratory Tests: The diagnosis of NS is based on typical clinical features with confirmation of heavy proteinuria and hypoalbuminemia [2]. Laboratory tests should confirm:
    • Nephrotic-range proteinuria
    • Hypoalbuminemia These tests are essential to establish the presence of nephrotic syndrome [3].
  • Kidney Biopsy: In some cases, a kidney biopsy may be necessary to confirm the type of nephrotic syndrome. This test is usually reserved for children who have complex disease or low kidney function [4].
  • Urine and Blood Tests: Nephrotic syndrome can usually be diagnosed after dipping a dipstick into a urine sample, which will show large amounts of protein [9].

It's worth noting that not all children with nephrotic syndrome will require a kidney biopsy. The decision to perform this test is typically made on a case-by-case basis.

References: [2] C KODNER (2016) - The diagnosis of NS is based on typical clinical features with confirmation of heavy proteinuria and hypoalbuminemia. [3] Dec 18, 2023 - Laboratory tests should confirm nephrotic-range proteinuria and hypoalbuminemia to establish the presence of nephrotic syndrome. [4] Many children with nephrotic syndrome will not need a kidney biopsy. The test is usually reserved for children who have complex disease or low kidney function. [9] Nephrotic syndrome can usually be diagnosed after dipping a dipstick into a urine sample, which will show large amounts of protein.

Additional Diagnostic Tests

  • Laboratory Tests
  • Kidney Biopsy
  • Urine and Blood Tests

Treatment

Treatment Options for Nephrotic Syndrome

Nephrotic syndrome, a kidney disorder characterized by excessive protein loss in the urine, can be treated with various medications to manage symptoms and slow disease progression.

  • Corticosteroids: Corticosteroids, such as prednisone, are often used as the first line of treatment for nephrotic syndrome. They help reduce inflammation and proteinuria (protein loss in the urine) [4].
  • Calcineurin Inhibitors: When corticosteroids fail to control symptoms, calcineurin inhibitors like cyclosporine and tacrolimus may be used as a second-line treatment option [2].
  • Immunosuppressive Agents: Other immunosuppressive agents, such as rituximab, mycophenolate mofetil, and cyclophosphamide, can also be used to manage nephrotic syndrome in more severe cases [8].

Specific Treatment Guidelines

The KDIGO (Kidney Disease: Improving Global Outcomes) clinical practice guidelines recommend a specific treatment regimen for nephrotic syndrome. This includes:

  • Prednisone dosed at 60 mg/m2/day (2 mg/kg/day) given daily for 4-6 weeks, followed by 40 mg/m2/day [3].
  • Furosemide (Lasix) or bumetanide can be used as a diuretic to manage edema and fluid overload [6].

Alternative Therapies

Rituximab has been explored as an alternative treatment option for nephrotic syndrome, particularly in cases that are difficult to treat with conventional therapies [7].

It's essential to note that the choice of treatment depends on individual patient factors, including age, underlying kidney disease, and response to previous treatments. A healthcare professional should be consulted to determine the best course of action.

References: [1] HG Kang (2011) - When intravenous high-dose methylprednisolone fails... [2] by MJ Kemper (2018) - Treatment options for genetic causes of SRNS [3] KDIGO Clinical Practice Guidelines (2023) [4] Most children respond well to treatment with prednisolone... [5] Furosemide (Lasix) at 40 mg orally twice daily or bumetanide... [6] Rituximab offers an alternative to current immunosuppressive therapies [7] Cyclophosphamide, calcineurin inhibitors (CNI), rituximab, and mycophenolate mofetil are often used...

Recommended Medications

💊 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:

  • Acute Kidney Injury (AKI) [2]
  • Acute Poststreptococcal Glomerulonephritis [2]
  • Angioedema [2]
  • Childhood Polyarteritis Nodosa [2]
  • Fabry's disease [5]
  • Post-streptococcal glomerulonephritis [5]
  • Lupus [5]

Additionally, the following conditions may also be considered in the differential diagnosis of nephrotic syndrome:

  • Hereditary renal disorders that present with persistent proteinuria, such as defects in the SRNS (Steroid-Resistant Nephrotic Syndrome) gene [9]
  • Other diseases that affect the glomerular filtration barrier, such as lupus or Fabry's disease [6]

It is essential to note that nephrotic syndrome can be caused by a variety of factors, and a comprehensive evaluation, including laboratory tests and imaging studies, is necessary to determine the underlying cause.

References: [2] Dec 18, 2023 — Differential Diagnoses · Acute Kidney Injury (AKI) · Acute Poststreptococcal Glomerulonephritis · Angioedema · Childhood Polyarteritis Nodosa. [5] Jul 29, 2020 — Nephrotic syndrome should be differentiate from other causes of glomerular disease such as Fabry's disease, post-streptococcal glomerulonephritis, lupus ... [6] Kidney disease that affects a kidney's filtering system is the most common cause of nephrotic syndrome in children. Other causes can include diseases that ... [9] by RP Hull · 2008 · Cited by 447 — Nephrotic syndrome is a relatively rare but important manifestation of kidney disease · It has serious complications and must be on the differential diagnosis ...

Additional Differential Diagnoses

Additional Information

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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.