nephrotic syndrome type 20

Nephrotic Syndrome Type 20 (NPHS20) Description

Nephrotic syndrome type 20, also known as NPHS20, is a rare X-linked renal disorder that affects males in the first decade of life. The condition is characterized by the onset of steroid-resistant nephrotic syndrome and proteinuria.

Key Features:

• Steroid-Resistant Nephrotic Syndrome: Patients with NPHS20 experience severe kidney damage, leading to excessive loss of protein in the urine (proteinuria).
• Proteinuria: High amounts of protein are found in the urine, which can lead to complications such as swelling and edema.
• Variable Course: The progression of NPHS20 is highly variable, with some patients experiencing a more severe course and

Based on the provided context, here are the signs and symptoms of nephrotic syndrome:

Common Signs and Symptoms:

• Severe swelling (edema), particularly around your eyes and in your ankles and feet [1]
• Foamy urine due to excess protein loss in the urine [1]
• Puffy eyelids and swelling in the legs, ankles, feet, lower abdomen, or other parts of your body [2]
• Swelling around the eyes is the most common sign in children, often mistaken for seasonal allergies when mild [4]

Additional Symptoms:

• Vomiting
• Abdominal pain
• Diarrhea
• Cold hands and feet
• Delayed capillary filling
• Oliguria (reduced urine output)
• Tachycardia (rapid heart rate)
• Hypotension (low blood pressure) is a late feature [5]

Other Characteristics:

• Excess fluid in the body due to serum hypoalbuminemia (low albumin levels in the blood) [7]
• Lower serum oncotic pressure causes fluid to accumulate in the interstitial tissues, leading to edema and sodium and water retention [7]

Please note that these symptoms can vary depending on individual cases and may not be exhaustive. If you have any specific questions or concerns about nephrotic syndrome, feel free to ask!

Nephrotic syndrome type 20 (NPHS20) can be diagnosed through various tests and procedures.

• Urine tests: A urinalysis can reveal abnormalities in your urine, such as large amounts of protein. You might be asked to collect urine samples over 24 hours [3].
• Blood tests: A blood test can show low levels of the protein albumin and often decreased levels of blood protein overall [3].
• Imaging of the kidneys: Imaging tests like CT or MRI scans may be used to visualize the kidneys and detect any abnormalities [8].
• Biopsy of the kidneys: A biopsy of the kidneys, also known as a kidney tissue sample, can be taken to examine the kidney tissue for any damage or disease [8].

It's worth noting that diagnosis is based on a combination of these tests and procedures, and may involve ruling out other conditions that could cause similar symptoms.

References: [3] - Urine tests are used to diagnose nephrotic syndrome through urine dipstick testing (2/3/4+) Early morning urinary protein measurement; protein-to-creatinine ratio is typically > 3 to 3.5 mg protein/mg [15] [8] - Diagnosis is based on blood and urine tests and sometimes imaging of the kidneys, a biopsy of the kidneys, or both.

Nephrotic syndrome type 20, also known as steroid-resistant nephrotic syndrome (SRNS), is a form of

Nephrotic syndrome type 20 (NPHS20) is a rare X-linked renal disorder characterized by the onset of steroid-resistant nephrotic syndrome and proteinuria in the first year of life [1]. When considering the differential diagnosis for NPHS20, it's essential to rule out other conditions that may present with similar symptoms.

According to medical literature, the differential diagnoses for NPHS20 include:

• Acute Kidney Injury (AKI)
• Acute Poststreptococcal Glomerulonephritis
• Angioedema
• Childhood Polyarteritis Nodosa [3]

These conditions can be ruled out through a combination of clinical evaluation, laboratory tests, and sometimes kidney biopsy. It's crucial to note that the diagnosis of NPHS20 is based on typical clinical features with confirmation of heavy proteinuria and hypoalbuminemia [4].

In addition to these differential diagnoses, it's also essential to consider other systemic diseases and toxic exposures that may cause nephrotic syndrome in children [7]. A thorough evaluation by a pediatric nephrologist or a multidisciplinary team is necessary to accurately diagnose NPHS20.

References: [1] - Context result 2 [3] - Context result 3 [4] - Context result 4 [7] - Context result 7