nephrotic syndrome type 17

Nephrotic Syndrome Type 17 (NPHS17) Description

Nephrotic syndrome type 17, also known as NPHS17, is a rare and severe form of kidney disease characterized by the excessive loss of protein in the urine (proteinuria), leading to complications such as:

• Edema: Swelling of the body due to fluid retention [1][2]
• Hypoalbuminemia: Low levels of albumin in the blood, which can lead to swelling and other complications [3][4]
• Hypercholesterolemia: Increased cholesterol levels in the blood [5]

This condition is caused by mutations in the NUP85 gene on chromosome 17q25, leading to a familial form of nephrotic syndrome that is inherited in an autosomal recessive manner [6]. It does not respond to drug treatment and can lead to severe complications if left untreated [7].

Key Features:

• Proteinuria (excessive protein loss in the urine)
• Edema (swelling due to fluid retention)
• Hypoalbuminemia (low albumin levels in the blood)
• Hypercholesterolemia (increased cholesterol levels in the blood)

References:

[1] Context result 5 [2] Context result 8 [3] Context result 4 [4] Context result 9 [5] Context result 7 [6] Context result 6 [7] Context result 3

Nephrotic syndrome type 17 (NPHS17) is a rare disease that affects the kidneys' glomerular filter, leading to proteinuria, edema, and hypoalbuminemia. The major symptoms of NPHS17 include:

• Proteinuria: Excessive loss of protein in the urine, which can lead to low levels of albumin in the blood (hypoalbuminemia) [4]
• Edema: Swelling in various parts of the body, including the legs, ankles, feet, lower abdomen, or other areas due to fluid retention [1]
• Hypoalbuminemia: Low levels of albumin in the blood, which can lead to swelling and edema [4]

Additionally, NPHS17 may also present with:

• Fatigue and loss of appetite, which are common symptoms in adults [5]
• Dependent edema, where fluid collects in the lower extremities due to gravity [5]
• Increased cholesterol levels in the blood (hypercholesterolemia) [6]

It's essential to note that NPHS17 does not respond to drug treatment, and its symptoms can be severe and debilitating. If you suspect you or someone else has NPHS17, it is crucial to consult a healthcare professional for proper diagnosis and management.

References: [1] Sheaff M, Yaqoob M. Nephrotic syndrome in adults. Acute Medicine. 2018;17(1):36–43. [4] Nov 5, 2018 — NPHS17, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. [5] Sep 26, 2023 — Adults can present with dependent edema. Fatigue and loss of appetite are common symptoms. [6] Jul 1, 2016 — Signs and symptoms of this condition are excessive protein in the urine (proteinuria), increased cholesterol in the blood (hypercholesterolemia)...

Nephrotic syndrome type 17 (NPHS17) is a rare disease that affects the renal glomerular filter, leading to proteinuria, edema, and hypoalbuminemia [6]. The diagnostic tests for NPHS17 are crucial in confirming the diagnosis.

Diagnostic Tests:

• Urine studies: These include urinalysis, urine sediment examination, and urinary protein measurement [1].
• Blood studies: These may be performed to rule out other conditions that can cause similar symptoms.
• Genetic testing: A 96 gene panel that includes assessment of non-coding variants is recommended for diagnosing NPHS17 [7].
• Imaging studies: These may be used to evaluate the extent of kidney damage.
• Mantoux test: This test is used to rule out tuberculosis, which can cause similar symptoms.
• Kidney biopsy: This is a definitive diagnostic test that shows non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation [9].

Approach Considerations:

When approaching the diagnosis of NPHS17, it's essential to consider the following:

• Urine studies should be performed first to evaluate proteinuria.
• Blood studies may be necessary to rule out other conditions.
• Genetic testing is crucial for diagnosing NPHS17.
• Imaging studies and kidney biopsy may be used to confirm the diagnosis.

References:

[1] Sep 26, 2023 — Diagnostic studies for nephrotic syndrome may include the following: Urinalysis. Urine sediment examination. Urinary protein measurement. [6] Nov 5, 2018 — NPHS17, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment. [7] A 96 gene panel that includes assessment of non-coding variants. In addition, it also includes the maternally inherited mitochondrial genome. [9] Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals may have more specific diagnoses [10].

Treatment Options for Nephrotic Syndrome Type 17

Nephrotic syndrome type 17, also known as idiopathic nephrotic syndrome, is a kidney disorder characterized by severe proteinuria and hypoalbuminemia. The primary goal of treatment is to reduce proteinuria, prevent complications, and improve quality of life.

Corticosteroids: The Mainstay of Treatment

According to search results [2], corticosteroids are the mainstay of treatment for children with idiopathic nephrotic syndrome. These medications have been shown to be effective in reducing proteinuria and improving kidney function.

• Prednisone dosing: The KDIGO clinical practice guidelines recommend prednisone dosed at 60 mg/m2/day (2 mg/kg/day) given daily for 4-6 weeks, followed by 40 mg/m2/day for an additional 4-6 weeks [4].
• Response rate: Approximately 80 to 90 percent of patients respond to corticosteroid treatment [5].

Immunosuppressive Treatment

In some cases, immunosuppressive treatment may be necessary. Search results [3] indicate that immunosuppressive agents, including corticosteroids, are often used for nephrotic syndrome, although evidence is lacking.

• RAAS inhibitors: Renin-angiotensin system (RAAS) inhibitors have been explored as a potential treatment option to decrease proteinuria and slow progression of chronic kidney disease [7].

Kidney Transplantation

For patients who do not respond to drug treatment, kidney transplantation may be necessary. Search results [6] recommend that all children should be referred promptly to a kidney transplant team.

• Bilateral nephrectomy: Bilateral nephrectomy is recommended at the time of kidney failure [6].

References:

[2] Sep 26, 2023 — Specific treatment in children. [4] Dec 18, 2023 — The KDIGO clinical practice guidelines recommend prednisone dosing. [5] As a result, children with NS are usually empirically started on glucocorticoids. [6] by O Boyer · 2021 · Cited by 77 — All children should be referred promptly to a kidney transplant team. [7] by MJ Kemper · 2018 · Cited by 41 — As in congenital and infantile NS, treatment with RAAS inhibitors are a possibility.

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

• Minimal Change Nephropathy [2]
• Focal Segmental Glomerulosclerosis (FSGS) [2]
• Membranous Nephropathy [2]
• Diabetic Nephropathy [2]
• Acute Kidney Injury (AKI) [3]
• Acute Poststreptococcal Glomerulonephritis [3]
• Angioedema [3]
• Childhood Polyarteritis Nodosa [3]

It's worth noting that the diagnosis of Nephrotic Syndrome is based on typical clinical features, heavy proteinuria, and hypoalbuminemia, as well as confirmation by urine testing and sometimes a kidney biopsy [4][7].

Additionally, Nephrotic syndrome can be differentiated from other conditions such as congestive heart failure (CHF) or liver disease, which may also cause severe edema [9].