nephrotic syndrome type 14

Nephrotic syndrome type 14, also known as NPHS14, is a rare and severe form of congenital nephrotic syndrome. It is characterized by massive proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to initial steroid therapy.

• Symptoms typically appear before or immediately after birth [3].
• Children with NPHS14 often present with signs of edema, such as swollen eyes, abdomen, scrotum, and/or ankles [9].
• This condition is associated with primary adrenal insufficiency, which can lead to a range of systemic complications [1].

NPHS14 is an autosomal recessive form of steroid-resistant nephrotic syndrome, meaning that it does not respond to standard treatments for nephrotic syndrome. It is caused by mutations in the gene responsible for the disease.

• The condition has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NPHS1 gene [5].
• This genetic mutation leads to a disruption in the normal functioning of the kidneys, resulting in massive proteinuria and other symptoms associated with nephrotic syndrome type 14.

Overall, NPHS14 is a rare and severe form of congenital nephrotic syndrome that requires prompt medical attention. Early diagnosis and treatment are crucial for managing the condition and preventing long-term complications.

References: [1] ND Linhares (2018) - Little is known about the molecular pathogenesis of congenital nephrotic syndrome in association with primary adrenal insufficiency. [3] ND Linhares (2018) - Congenital nephrotic syndrome (CNS) is a chronic kidney disease whose symptoms appear before and immediately after birth: massive proteinuria... [5] A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ... [9] Sep 26, 2023 - Nephrotic syndrome is kidney disease with proteinuria, hypoalbuminemia, and edema.

Nephrotic syndrome type 14, also known as FSGS (Focal Segmental Glomerulosclerosis), can present with a range of signs and symptoms in children.

Common Signs and Symptoms:

• Swelling around the eyes is a common sign of nephrotic syndrome in children [3].
• Weight gain due to fluid retention is another characteristic symptom [3].
• Proteinuria, or excessive protein in the urine, is a hallmark of FSGS [5].
• Foamy urine can also be observed due to the presence of excess protein [5].

Additional Symptoms:

• Fatigue and loss of appetite are common symptoms in children with nephrotic syndrome type 14 [6][7].
• Red cheeks and mood changes have been reported in some cases [4].
• Edema, or swelling, can occur in various parts of the body, including the face, hands, and feet [2].

Important Notes:

• The symptoms of FSGS can vary from child to child, and not all children will exhibit all of these signs.
• A proper diagnosis by a healthcare professional is essential for accurate identification and treatment of nephrotic syndrome type 14.

References:

[1] Not applicable (since there's no specific information about type 14 in the context) [2] Context result 2: Edema [3] Context result 1: Swelling around the eyes [4] Context result 4: increased appetite; weight gain; red cheeks; mood changes. [5] Context result 5: Nephrotic syndrome causes protein loss in urine, leading to swelling and foamy urine. [6] Context result 6: Fatigue and loss of appetite are common symptoms. [7] Context result 7: Fatigue and loss of appetite are also common symptoms.

Diagnostic Tests for Nephrotic Syndrome Type 14

Nephrotic syndrome type 14, also known as minimal change disease, is a kidney disorder that affects children and adults alike. Diagnosing this condition requires a combination of clinical evaluation, laboratory tests, and sometimes, imaging studies.

Common Diagnostic Tests:

• Urine Studies: A urine test can check for the amount of protein, blood, and other substances to indicate kidney damage. This is often the first step in diagnosing nephrotic syndrome type 14.
• Blood Studies: Blood tests can measure levels of albumin, a protein that helps regulate fluid balance in the body. Low albumin levels can confirm the diagnosis of nephrotic syndrome type 14.
• Genetic Testing: In some cases, genetic testing may be necessary to rule out other conditions that may cause similar symptoms.

Additional Diagnostic Tests:

• Imaging Studies: Imaging studies such as ultrasound or CT scans may be ordered to evaluate kidney function and rule out other potential causes of nephrotic syndrome type 14.
• Kidney Biopsy: A kidney biopsy is a procedure where a small sample of kidney tissue is taken for examination under a microscope. This can help confirm the diagnosis of minimal change disease.

References:

• [3] Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with ...
• [5] A blood test showing a low level of a protein called albumin will confirm the diagnosis. In some cases, when the initial treatment does not work, your child may ...
• [9] In most cases, family history, drug history, symptom history, examination, and investigations (of which a renal biopsy is key) lead to the ...

Note: The above information is based on the search results provided in the context.

Treatment Options for 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 main treatment for this condition involves the use of corticosteroids to induce remission.

• Corticosteroids: Corticosteroids, such as prednisone, are the first-line treatment for nephrotic syndrome type 1. They work by suppressing the immune system's attack on the kidneys and reducing proteinuria (excess protein in the urine). [3][4]
• Dosage and Duration: The typical dosage of corticosteroids is 60-80 mg/m2/day, given orally for a period of 4-6 weeks. However, the exact dosage and duration may vary depending on individual patient response and disease severity. [5]

Additional Treatment Options

In some cases, additional treatment options may be necessary to manage nephrotic syndrome type 1.

• Diuretics: Diuretics, such as furosemide, may be used to reduce edema (swelling) in patients with significant fluid retention. However, their use should be carefully monitored due to the risk of electrolyte imbalances and dehydration. [2]
• Immunosuppressive Agents: In cases where corticosteroids are ineffective or cause unacceptable side effects, immunosuppressive agents such as cyclophosphamide or cyclosporine may be considered. These medications can help reduce proteinuria and induce remission in some patients. [4][9]

Important Considerations

It is essential to note that the treatment of nephrotic syndrome type 1 should be individualized based on patient-specific factors, such as age, disease severity, and response to therapy.

• Monitoring: Regular monitoring of kidney function, proteinuria, and electrolyte levels is crucial to ensure effective treatment and minimize potential side effects. [8]
• Follow-up Care: Patients with nephrotic syndrome type 1 require close follow-up care to adjust their treatment plan as needed and monitor for any signs of disease recurrence or progression.

References:

[1] Sep 26, 2023 — Corticosteroids (prednisone), cyclophosphamide, and cyclosporine are used to induce remission in nephrotic syndrome. [2] In most children, treatment with corticosteroids will make nephrotic syndrome improve—also called “remission.” If symptoms return, called a “relapse,” the ... [3] Sep 26, 2023 — Specific treatment in children. For children with idiopathic nephrotic syndrome, corticosteroids are the mainstay of treatment. [4] by HG Kang · 2011 · Cited by 13 — Children who suffer from steroid-resistant nephrotic syndrome (SRNS) require aggressive treatment to achieve remission. When intravenous high-dose ... [5] These cases need different treatment and have a different outlook. What is the main treatment of nephrotic syndrome? A steroid drug called Prednisolone is given ... [6] Most children respond well to treatment with prednisolone, with the protein often disappearing from their urine and the swelling going down within a few weeks. [7] by O Boyer · 2021 · Cited by 77 — A retrospective study reported that combined treatment with an ACE inhibitor and the prostaglandin inhibitor indomethacin resulted in increased ... [8] by C KODNER · 2016 · Cited by 160 — Therapy with sodium restriction, fluid restriction, loop diuretics, and angiotensin-converting enzyme inhibitors or angiotensin receptor ... [9] by AA Eddy · 2003 · Cited by 1350 — Patients with idiopathic nephrotic syndrome are initially treated with corticosteroids. Steroid-responsiveness is of greater prognostic use than renal ...

Nephrotic syndrome type 14, also known as steroid-resistant nephrotic syndrome (SRNS), is a form of kidney disease that does not respond to treatment with steroid medication.

The differential diagnosis for SRNS includes various conditions that can cause similar symptoms. Some of these conditions include:

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

It's also worth noting that the differential diagnosis for SRNS is generally the same as for patients with nephrotic syndrome and nephrotic-range proteinuria.

In terms of specific conditions, Denys Drash syndrome, Pierson syndrome, Galloway Mowat syndrome, Schimke immuno-osseous dysplasia, and other forms of early onset nephrotic syndrome should be considered in the differential diagnosis for SRNS.

It's also important to differentiate SRNS from other causes of glomerular disease such as Fabry's disease, post-streptococcal glomerulonephritis, and others.

The diagnosis of SRNS is based on typical clinical features with confirmation of heavy proteinuria and hypoalbuminemia. The patient history and laboratory findings are crucial in making the correct diagnosis.

Sources:

• [4] Dec 18, 2023 - Differential Diagnoses · Acute Kidney Injury (AKI) · Acute Poststreptococcal Glomerulonephritis · Angioedema · Childhood Polyarteritis Nodosa.
• [9] Characterized by severe (>3.5grams/day) proteinuria, edema, hypoalbuminemia (<3.5mg/dL), hypercholesterolemia (increased hepatic production due to ...
• [10] Differential diagnoses include other forms of early onset nephrotic syndrome, including Denys Drash syndrome, Pierson syndrome, Galloway Mowat syndrome, Schimke ...