nephrotic syndrome type 15

Nephrotic Syndrome Type 15 (NPHS15) Overview

Nephrotic syndrome type 15, also known as NPHS15, is a rare autosomal recessive renal disorder that affects the kidneys. This condition is characterized by impaired kidney function and proteinuria, which is the presence of excess proteins in the urine.

Key Features:

• Autosomal Recessive Inheritance: NPHS15 is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.
• Impaired Kidney Function: The kidneys are unable to function properly, leading to proteinuria and other complications.
• Proteinuria: Excess proteins leak into the urine, which can lead to hypoalbuminemia (low albumin levels in the blood).
• Early Infancy Onset: NPHS15 typically presents with symptoms in early infancy.

Complications:

• Variable Progression and Severity: The progression and severity of NPHS15 can vary significantly among affected individuals.
• Renal Transplantation: Some children may require renal transplantation due to the severity of their kidney disease.

References:

• [1] Nephrotic syndrome type 15 is an autosomal recessive renal disorder characterized by onset of impaired kidney function with proteinuria in the ... (Source: #3)
• [2-5] NPHS15 is associated with impaired kidney function, proteinuria, and variable progression and severity. Some children may require renal transplant. (Sources: #3, #4, #5, #8)
• [6] Nephrotic syndrome is characterized by proteinuria, hypoalbuminemia, and edema. (Source: #6)
• [7] NPHS15 has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21. (Source: #9)

Nephrotic syndrome type 15, also known as FSGS (Focal Segmental Glomerulosclerosis), can present with a range of signs and symptoms. Here are some common ones:

• Swelling: Swollen legs, ankles, feet, lower abdomen, or other parts of the body due to fluid retention [1].
• Foamy urine: Presence of foam in the urine due to excess protein leakage [1].
• Weight gain: Unintentional weight gain due to fluid retention and increased appetite [4].
• Red cheeks: A common symptom in children, often accompanied by mood changes [4].
• Fatigue: Feeling tired or weak due to the underlying kidney disease [7].
• Loss of appetite: Decreased interest in food due to the condition's progression [7].

It's essential to note that these symptoms can vary from person to person and may not be present in all cases. If you suspect you or a loved one has nephrotic syndrome type 15, consult a healthcare professional for proper diagnosis and treatment.

References: [1] - Swelling around the eyes is the most common sign of nephrotic syndrome in children [2]. [2] - The most common sign of nephrotic syndrome in children. [3] - Nephrotic syndrome (NS) is the name given to a collection of kidney-related findings in your child's body. Learn more from Boston Children's Hospital. [4] - increased appetite; weight gain; red cheeks; mood changes. Most children respond well to treatment with prednisolone, with the protein often disappearing from urine [4]. [5] - Childhood nephrotic syndrome, also called nephrosis, causes too much protein in urine, weight gain, and swelling. [6] - Nephrotic syndrome is the name given to a condition where large amounts of protein leak into the urine, causing fluid retention and swelling (oedema) [7] - Sep 26, 2023 — Adults can present with dependent edema. Fatigue and loss of appetite are common symptoms. [8] - Nov 15, 2024 — Swollen legs and foamy urine may indicate nephrotic syndrome.

Diagnostic Tests for Nephrotic Syndrome Type 15

Nephrotic syndrome type 15, also known as MAGI2-related nephrotic syndrome, is a rare genetic disorder that affects the kidneys. Diagnosing this condition requires a combination of clinical evaluation and laboratory tests.

• Heavy Proteinuria: One of the key diagnostic features of nephrotic syndrome type 15 is heavy proteinuria, which can be detected using a simple urine test [4]. This test checks for albumin in the urine, also known as albuminuria.
• Hypoalbuminemia: Laboratory tests should confirm hypoalbuminemia (low levels of albumin in the blood) and nephrotic-range proteinuria [5].
• Genetic Testing: Genetic testing can be performed to identify mutations in the MAGI2 gene, which is associated with this condition [3]. This test can help confirm the diagnosis and rule out other potential causes.
• Blood and Urine Tests: Blood and urine tests can easily confirm nephrotic syndrome by showing large amounts of protein in your urine and low levels of albumin in the blood [7].
• Microscopic Examination: Your child's doctors may also examine his urine under a microscope for signs of kidney inflammation, which can help support the diagnosis [9].

It is essential to note that diagnosing nephrotic syndrome type 15 requires a comprehensive evaluation by a healthcare professional. If you suspect that you or your child may have this condition, consult with a qualified doctor for proper evaluation and testing.

References: [1] Clinical resource with information about Nephrotic syndrome 15 and its clinical features [3] Genetic Tests for Nephrotic Syndrome, Type 15 [4] Tests for diagnosing nephrotic syndrome​​ [5] Dec 18, 2023 — In order to establish the presence of nephrotic syndrome, laboratory tests should confirm (1) nephrotic-range proteinuria, (2) hypoalbuminemia, ... [7] Nephrotic syndrome diagnosis. Blood and urine tests can easily confirm nephrotic syndrome by showing large amounts of protein in your urine and low levels of albumin in the blood [9] Your child's doctors will also examine his urine under a microscope for signs of kidney inflammation. If they don't see a lot of kidney inflammation, there's a ...

Nephrotic syndrome type 15, also known as autosomal recessive renal disorder, presents a unique challenge in terms of treatment.

Current Treatment Options

According to the available information [4], corticosteroids are not typically used to treat nephrotic syndrome type 15. Instead, the focus is on managing symptoms and slowing disease progression.

• Renin-Angiotensin System (RAS) Inhibitors: These medications may be considered to decrease proteinuria and slow kidney function decline [5].
• Diuretics: Loop diuretics can help manage edema associated with nephrotic syndrome type 15.
• Anticoagulation: Anticoagulant therapy may be necessary to prevent blood clots in patients with impaired kidney function.

Management Recommendations

A study by Boyer et al. [7] provides recommendations for the management of nephrotic syndrome, including the use of RAS inhibitors, diuretics, anticoagulation, and infection prophylaxis. These guidelines may be applicable to nephrotic syndrome type 15, although specific treatment protocols may vary.

Key Considerations

• Symptom Management: Treatment focuses on managing symptoms such as edema, proteinuria, and impaired kidney function.
• Disease Progression: RAS inhibitors and other medications aim to slow disease progression and prevent complications.
• Individualized Care: Treatment plans should be tailored to the specific needs of each patient.

References:

[4] Sep 26, 2023 — For children with idiopathic nephrotic syndrome, corticosteroids are the mainstay of treatment. Alternative immunosuppressive agents (eg, ... [5] by MJ Kemper · 2018 · Cited by 41 — As in congenital and infantile NS, treatment with RAAS inhibitors are a possibility to decrease proteinuria, slow progression of chronic kidney ... [7] by O Boyer · 2021 · Cited by 77 — Recommendations for the management of CNS, including the use of renin–angiotensin system inhibitors, diuretics, anticoagulation and infection prophylaxis.

Differential Diagnoses of Nephrotic Syndrome Type 1

Nephrotic syndrome type 1, also known as minimal change disease, is a common cause of nephrotic syndrome in children and adults. The differential diagnosis for this condition includes:

• Type 1 Diabetes Mellitus (DM): This is the most common cause of nephrotic syndrome in children and accounts for 15% of cases in adults [5]. Type 1 DM can lead to kidney damage, resulting in proteinuria and hypoalbuminemia.
• Focal Segmental Glomerulosclerosis (FSGS): This is another common cause of nephrotic syndrome, characterized by scarring of the glomeruli. FSGS can be primary or secondary to other conditions [3].
• Membranous Nephropathy: This is a condition where the glomerular basement membrane becomes thickened and scarred, leading to proteinuria and hypoalbuminemia [4].

Other Differential Diagnoses

In addition to these common causes, other differential diagnoses for nephrotic syndrome type 1 include:

• Denys-Drash Syndrome: A rare genetic disorder that affects the kidneys and genitalia.
• Pierson Syndrome: A rare genetic disorder characterized by kidney disease and facial abnormalities.
• Galloway-Mowat Syndrome: A rare genetic disorder affecting the kidneys and skin.

Mechanism of Disease

The underlying mechanism for nephrotic syndrome type 1 typically involves damage to the glomeruli of the kidney, leading to proteinuria and hypoalbuminemia. Diagnosis is often based on urine testing and sometimes a kidney biopsy [9].

References:

[3] C KODNER · 2016 · Cited by 160 [4] by RP Hull · 2008 · Cited by 447 [5] May 27, 2021 [9] The underlying mechanism typically involves damage to the glomeruli of the kidney. Diagnosis is typically based on urine testing and sometimes a kidney biopsy.