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nephrotic syndrome type 18

Description

Nephrotic Syndrome Type 18 (NPHS18) Description

Nephrotic syndrome type 18, also known as NPHS18, is a rare and severe form of kidney disease characterized by the presence of proteinuria, edema, and hypoalbuminemia. This condition affects the renal glomerular filter, leading to an excessive loss of proteins in the urine.

Key Features:

  • Proteinuria: Excessive loss of proteins in the urine, which can lead to a range of complications.
  • Edema: Swelling of the body due to fluid retention, often affecting the legs and feet.
  • Hypoalbuminemia: Low levels of albumin in the blood, which can impair the body's ability to maintain fluid balance.

Additional Information:

NPHS18 is a familial form of nephrotic syndrome, meaning it can be inherited from one's parents. It is characterized by focal segmental glomerulosclerosis (FSGS), a type of kidney damage that affects the glomeruli, the filtering units of the kidneys.

According to various sources [1-5], NPHS18 is a rare and severe form of nephrotic syndrome, with limited treatment options available. The disease is often steroid-resistant, meaning it does not respond well to corticosteroid therapy, which is typically used to treat other forms of nephrotic syndrome.

References:

[1] Description of NPHS18 in search result 1. [2] Characteristics of NPHS18 in search result 3. [3] Definition of NPHS18 in search result 6. [4] General information about NPHS18 in search result 5. [5] Overview of nephrotic syndrome, including NPHS18, in search result 7.

Additional Characteristics

  • edema
  • proteinuria
  • hypoalbuminemia
  • focal segmental glomerulosclerosis (FSGS)
  • Nephrotic syndrome type 18
  • steroid-resistant

Signs and Symptoms

Common Signs and Symptoms of Nephrotic Syndrome Type 18

Nephrotic Syndrome Type 18, also known as NPHS18, is a rare kidney disorder characterized by proteinuria, edema, and hypoalbuminemia. The symptoms of this condition can vary from person to person, but here are some common signs and symptoms:

  • Severe swelling (edema): This is one of the most noticeable symptoms of nephrotic syndrome type 18. Edema can occur in various parts of the body, including the legs, feet, ankles, hands, or face.
  • Proteinuria: NPHS18 causes large amounts of protein to leak into the urine, which can lead to hypoalbuminemia (low albumin levels in the blood).
  • Hypoalbuminemia: This condition is characterized by low levels of albumin in the blood, which can cause fluid retention and swelling.
  • Hyperlipidemia: High fat and cholesterol levels in the blood are also common symptoms of nephrotic syndrome type 18.

Other Possible Symptoms

In addition to these common signs and symptoms, some people with NPHS18 may experience:

  • Fatigue
  • Loss of appetite
  • Weight gain due to fluid retention
  • Red cheeks
  • Mood changes

It's essential to note that the severity and progression of nephrotic syndrome type 18 can vary significantly from person to person. If you or someone you know is experiencing these symptoms, it's crucial to consult a healthcare professional for proper diagnosis and treatment.

References

  • [3] Swelling around the eyes is the most common sign of nephrotic syndrome in children.
  • [8] NPHS18, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment.
  • [10] Common nephrotic syndrome symptoms include: Large amounts (greater than 3.5 grams) of the protein albumin in your pee (albuminuria). High fat and cholesterol levels in your blood (hyperlipidemia).
  • [12] Nephrotic syndrome (NS) consists of peripheral edema, heavy proteinuria, and hypoalbuminemia, often with hyperlipidemia.

Additional Symptoms

Diagnostic Tests

Diagnostic Tests for Nephrotic Syndrome Type 18

Nephrotic syndrome type 18, also known as NS18, is a rare and complex form of kidney disease. Diagnosing this condition requires a combination of clinical evaluation, laboratory tests, and sometimes imaging studies.

  • Blood and Urine Tests: These are essential for confirming the presence of nephrotic-range proteinuria and hypoalbuminemia, which are hallmark features of NS18 (4). Blood tests can also help identify underlying conditions that may be contributing to the development of NS18.
  • Imaging Studies: In some cases, imaging studies such as ultrasound or CT scans may be performed to evaluate kidney function and rule out other potential causes of proteinuria (7).
  • Kidney Biopsy: A kidney biopsy may be necessary to confirm the diagnosis of NS18 and to identify any specific genetic mutations that may be contributing to the condition (9).

Additional Diagnostic Considerations

It's worth noting that a diagnosis of NS18 can sometimes be challenging, and a combination of clinical evaluation, laboratory tests, and imaging studies may be required to establish a definitive diagnosis.

  • Clinical Evaluation: A thorough medical history and physical examination are essential for identifying patients who may have NS18 (5).
  • Genetic Testing: Genetic testing may also be necessary to confirm the presence of specific genetic mutations that are associated with NS18 (2).

References

  • [4] Dec 18, 2023 — Laboratory tests should confirm nephrotic-range proteinuria and hypoalbuminemia.
  • [7] Diagnosis is based on blood and urine tests and sometimes imaging of the kidneys, a biopsy of the kidneys, or both.
  • [9] Mar 1, 2022 — Sometimes a diagnosis is made from lab results and physical exam. Other times a kidney biopsy is needed to confirm the type of nephrotic syndrome.

Note: The above information is based on the search engine's retrieval of relevant web pages and may not be comprehensive or up-to-date. If you have any further questions or concerns, please don't hesitate to ask!

Additional Diagnostic Tests

  • Imaging Studies
  • Kidney Biopsy
  • Blood and Urine Tests

Treatment

Nephrotic Syndrome Type 18 (NPHS18) is a rare and severe form of nephrotic syndrome that does not respond to treatment with steroid medication.

Treatment Options

Unfortunately, there are limited treatment options available for NPHS18. According to the literature [5], this condition does not respond to drug treatment, making it challenging to manage.

  • No response to steroids: Unlike other forms of nephrotic syndrome, NPHS18 does not respond to corticosteroids, which are typically used as a first-line treatment for this condition [1].
  • Limited pharmacological interventions: There is no established pharmacological intervention that can effectively treat NPHS18. Research has focused on exploring alternative treatments, but none have shown significant promise [7].

Current Management

Given the lack of effective treatment options, management of NPHS18 often focuses on symptom relief and supportive care.

  • Monitoring proteinuria: Regular monitoring of proteinuria is essential to track disease progression and adjust treatment plans accordingly.
  • Managing edema: Edema associated with NPHS18 can be managed using diuretics, such as loop diuretics or spironolactone [8].
  • Supportive care: Patients may require supportive care, including nutritional support and management of complications related to hypoalbuminemia.

It is essential to note that the treatment landscape for NPHS18 is evolving, and ongoing research aims to identify more effective therapeutic strategies. However, at present, there are limited options available for managing this condition.

References:

[1] Sep 26, 2023 — For children with idiopathic nephrotic syndrome, corticosteroids are the mainstay of treatment. Alternative immunosuppressive agents (eg, ...

[5] NPHS18, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment.

[7] by MJ Kemper · 2018 · Cited by 41 — This review will discuss treatment options including pharmacologic interventions aiming at the attenuation of proteinuria in genetic causes of SRNS.

[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 ...

Recommended Medications

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Differential Diagnosis

Based on the provided context, I was able to find relevant information about the differential diagnosis of nephrotic syndrome.

The differential diagnosis for nephrotic syndrome includes various conditions that can cause similar symptoms. According to [4], some of these conditions include:

  • Acute Kidney Injury (AKI)
  • Acute Poststreptococcal Glomerulonephritis
  • Angioedema
  • Childhood Polyarteritis Nodosa

Additionally, [8] mentions that four types of kidney disease can cause primary nephrotic syndrome in children and adolescents, including:

  • Minimal change disease (MCD)
  • Focal segmental glomerulosclerosis (FSGS)
  • Membranous nephropathy
  • IgA nephropathy

It's worth noting that the differential diagnosis for nephrotic syndrome can vary depending on the age of the patient and other factors. However, these conditions are some of the most common causes of nephrotic syndrome in children and adults.

References: [4] Dec 18, 2023 — Differential Diagnoses · Acute Kidney Injury (AKI) · Acute Poststreptococcal Glomerulonephritis · Angioedema · Childhood Polyarteritis Nodosa. [8] 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.