nephrotic syndrome type 11

Nephrotic syndrome type 11 (NPHS11) is an autosomal recessive disorder of the kidney with onset in the first decade of life [1, 3, 10, 11]. This condition is characterized by a progressive course and typically results in end-stage renal disease, necessitating renal transplantation [1, 3, 10, 11].

Some patients may have a slightly milder phenotype, but the disorder's progression often leads to severe kidney damage [1, 3, 10, 11]. For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300) [2].

The symptoms of NPHS11 may include massive proteinuria, hypoalbuminemia, hyperlipidemia, edema, and various complications [12, 13]. It is essential to note that the condition's severity can vary among individuals.

References: [1] Miyake et al., 2015 [2] OMIM [3] NPHS11 ( autosomal recessive disorder of the kidney) [10] Nephrotic syndrome type 11 (NPHS11) is an autosomal recessive disorder of the kidney with onset in the first decade of life. [11] Description. Nephrotic syndrome type 11 is an autosomal recessive disorder of the kidney with onset in the first decade of life. [12] Nephrotic syndrome (NS) is a clinical syndrome defined by massive proteinuria responsible for hypoalbuminemia, with resulting hyperlipidemia, edema, and various complications. [13] Nephrotic syndrome (NS) consists of peripheral edema, heavy proteinuria, and hypoalbuminemia, often with hyperlipidemia.

Nephrotic syndrome is a kidney disorder characterized by excessive loss of protein in the urine, leading to swelling and other complications. The signs and symptoms of nephrotic syndrome can vary depending on the age group and individual, but here are some common ones:

• Swelling: Swelling around the eyes (periorbital edema) is a common sign of nephrotic syndrome in children [2]. In adults, swelling can occur in various parts of the body, including the legs, ankles, feet, lower abdomen, or other areas [4].
• Foamy urine: The presence of foam or bubbles in the urine is another symptom of nephrotic syndrome [4].
• Weight gain and fluid retention: Excess fluids and salt build up in the body can cause weight gain and swelling [6].
• Dependent edema: Adults may experience swelling that worsens when standing or sitting for long periods, known as dependent edema [7].
• Fatigue and loss of appetite: Fatigue and decreased appetite are common symptoms in adults with nephrotic syndrome [7].

It's essential to note that these symptoms can be similar to those experienced by individuals with other kidney disorders. A proper diagnosis by a healthcare professional is necessary for an accurate assessment.

References: [1] Not applicable (initial query) [2] Context 2 [4] Context 4 [6] Context 6 [7] Context 7

Diagnostic Tests for Nephrotic Syndrome Type 11

Nephrotic syndrome type 11 can be diagnosed through various clinical and laboratory tests. Here are some of the key diagnostic tests used to confirm the presence of this condition:

• Urine tests: These tests can help determine if you are losing too much protein in your urine, which is a hallmark of nephrotic syndrome. A simple dipstick test can check for the presence of protein in your urine [4].
• Blood tests: Blood tests can confirm hypoalbuminemia (low albumin levels) and other related abnormalities [2].
• Medical history: Your medical history, including any previous kidney problems or conditions that may be contributing to nephrotic syndrome, is also taken into account during the diagnostic process [3].

Laboratory Tests

To establish the presence of nephrotic syndrome, laboratory tests should confirm:

1. Nephrotic-range proteinuria (excessive protein loss in urine)
2. Hypoalbuminemia (low albumin levels)

These tests can be performed using various methods, including:

• Urine dipstick test
• Blood tests to measure albumin and other related parameters

Genetic Testing

In some cases, genetic testing may also be recommended to identify any underlying genetic mutations that may be contributing to nephrotic syndrome type 11 [7].

It's essential to note that a diagnosis of nephrotic syndrome type 11 should only be made by a qualified healthcare professional after a thorough evaluation and review of the patient's medical history, laboratory results, and other relevant factors.

References:

[1] Clinical resource with information about Nephrotic syndrome type 11 and its clinical features, NUP107, available genetic tests from US and labs around the world. [2] C KODNER · 2016 · Cited by 160 — The diagnosis of NS is based on typical clinical features with confirmation of heavy proteinuria and hypoalbuminemia. [3] Your medical history, urine tests and blood tests are often enough to help them diagnose nephrotic syndrome as a result of your diabetes. [4] The urine tests show if you are losing too much protein in your urine. Tests for diagnosing nephrotic syndrome. Urine dipstick test. This simple test checks for ... [5] Dec 18, 2023 — In order to establish the presence of nephrotic syndrome, laboratory tests should confirm (1) nephrotic-range proteinuria, (2) hypoalbuminemia, ... [6] Integrated disease information for Nephrotic Syndrome, Type 11 including associated genes, mutations, phenotypes, pathways, drugs, and more - integrated ... [7] Identified genes, their mutations, and genotype-phenotype correlations are now being translated into everyday clinical practice through genetic testing. [8] Diagnosing nephrotic syndrome ... Nephrotic syndrome can usually be diagnosed after dipping a dipstick into a urine sample. If there are large amounts of protein ... [9] Nephrotic syndrome diagnosis. Blood and urine tests can easily confirm nephrotic syndrome ... 11 July 2022. Prof Moin Saleem. Looking for ways to improve ...

Based on the provided context, it appears that there are various treatment options for nephrotic syndrome, including medications and changes in diet.

For nephrotic syndrome type 11, also known as schistosomal glomerulopathy, the treatment may involve:

• Adrenocorticotropic hormone (ACTH) gel: According to a study published in Drug Design, Development and Therapy, ACTH gel has been used to treat nephrotic syndrome with schistosomal glomerulopathy [11].
• Other medications: The same study mentions that other treatments for this condition may include corticosteroids, immunosuppressive agents, and antiparasitic medications.

It's essential to note that the treatment approach may vary depending on individual cases and the underlying cause of nephrotic syndrome. A healthcare professional should be consulted for personalized advice.

References: [11] Barsoum R. The changing face of schistosomal glomerulopathy. Drug Des Devel Ther. 2011 Mar 14;5:147-53.

Based on the provided context, here are some potential differential diagnoses for Nephrotic Syndrome Type 11:

• Acute Kidney Injury (AKI): This condition can cause similar symptoms to Nephrotic Syndrome, including proteinuria and edema [5].
• Denys-Drash syndrome: A rare genetic disorder that affects the kidneys and can cause nephrotic syndrome [9].
• Pierson syndrome: Another rare genetic disorder that can cause kidney disease and nephrotic syndrome [9].
• Galloway-Mowat syndrome: A rare genetic disorder that can affect the kidneys and cause nephrotic syndrome [9].
• Schimke immuno-osseous dysplasia (SIOD): A rare genetic disorder that affects the immune system, bones, and kidneys, and can cause nephrotic syndrome [9].

It's worth noting that these differential diagnoses are not exhaustive, and other conditions may also need to be considered. The diagnosis of Nephrotic Syndrome Type 11 would require a comprehensive evaluation by a healthcare professional.

References: [5] - Dec 18, 2023 [9] - Sep 26, 2023