nephrotic syndrome type 9

Nephrotic Syndrome Type 9 (NPHS9) Description

Nephrotic syndrome type 9, also known as NPHS9, is a rare and serious chronic kidney disorder characterized by significant proteinuria, leading to hypoalbuminemia and edema. This condition typically affects individuals in the first or second decade of life.

Key Features:

• Autosomal Recessive Inheritance: NPHS9 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 disorder.
• Significant Proteinuria: The condition is characterized by massive proteinuria, which leads to hypoalbuminemia and edema.
• Steroid Treatment-Resistant: NPHS9 is steroid treatment-resistant, meaning that standard corticosteroid therapy is ineffective in managing the condition.
• Progression to End-Stage Renal Disease: The disorder typically progresses to end-stage renal disease, requiring transplantation.

Additional Information:

NPHS9 is a rare and serious kidney disorder with significant proteinuria. It is essential for individuals affected by this condition to receive proper medical attention and care to manage the symptoms and slow down the progression of the disease.

References:

• [1] Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by significant proteinuria resulting in hypoalbuminemia and edema. Onset is in the first or second decade of life. The disorder is steroid treatment-resistant and usually progresses to end-stage renal disease requiring transplantation.
• [2] Summary. Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by significant proteinuria resulting in hypoalbuminemia and edema. Onset is in the first or second decade of life. The disorder is steroid treatment-resistant and usually progresses to end-stage renal disease requiring transplantation.
• [3] Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by significant proteinuria resulting in hypoalbuminemia and edema. Onset is in the first or second decade of life. ... For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300
• [13] Description. Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by significant proteinuria resulting in hypoalbuminemia and edema. Onset is in the first or second decade of life. The disorder is steroid treatment-resistant and usually progresses to end-stage renal disease requiring transplantation.
• [15] Nephrotic syndrome (NS) is a clinical syndrome defined by massive proteinuria responsible for hypoalbuminemia, with resulting hyperlipidemia, edema, and various complications. It is caused by increased permeability through the damaged basement membrane in the renal glomerulus, especially infectious or thrombo-embolic.

Nephrotic syndrome type 9 (NPHS9) is a rare and chronic kidney disorder characterized by significant proteinuria, leading to hypoalbuminemia and edema.

Common signs and symptoms:

• Proteinuria: One of the hallmark features of NPHS9 is excessive loss of protein in the urine, which can lead to low albumin levels in the blood (hypoalbuminemia) [4].
• Edema: Swelling in the body due to fluid retention is a common symptom of NPHS9. This swelling can occur in various parts of the body, including the legs, abdomen, and around the eyes [7][8].
• Weight gain: As excess fluids build up in the body, weight gain can be observed in individuals with NPHS9 [6].

Other symptoms:

• Increased appetite: Some people with NPHS9 may experience increased hunger due to the body's attempt to compensate for the low albumin levels [5].
• Red cheeks: A rare but possible symptom of NPHS9 is redness in the cheeks, which can be a sign of anemia or other underlying conditions.
• Mood changes: In some cases, individuals with NPHS9 may experience mood swings or other emotional changes due to the physical and psychological impact of the disease.

It's essential to note that these symptoms can vary from person to person, and not everyone with NPHS9 will exhibit all of them. If you suspect you or a loved one has nephrotic syndrome type 9, consult a healthcare professional for proper diagnosis and treatment.

References: [4] - Context result 4 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7 [8] - Context result 8

Diagnostic Tests for Nephrotic Syndrome Type 9

Nephrotic syndrome type 9, also known as COQ8B-related nephrotic syndrome, is a rare genetic disorder that affects the kidneys. Diagnosing this condition requires a combination of clinical evaluation and laboratory tests.

• Urine tests: These are essential in diagnosing nephrotic syndrome type 9. The urine tests show if you are losing too much protein in your urine [3]. This can be confirmed by measuring the level of albumin (a type of protein) in the urine.
• Laboratory tests: To confirm the diagnosis, laboratory tests should confirm two key features: nephrotic-range proteinuria and hypoalbuminemia [5]. Nephrotic-range proteinuria refers to the presence of large amounts of protein in the urine. Hypoalbuminemia is a condition characterized by low levels of albumin in the blood.
• Genetic testing: Genetic tests can be performed to identify mutations in the COQ8B gene, which is associated with nephrotic syndrome type 9 [4]. This test can help confirm the diagnosis and rule out other conditions that may present similarly.

It's essential to note that a physical examination, medical history, and urine tests are typically used to diagnose nephrotic syndrome, including type 9 [6].

References:

[1] Clinical resource with information about Nephrotic syndrome type 9 and its clinical features, COQ8B, available genetic tests from US and labs around the ...

[3] Your health care professional can diagnose nephrotic syndrome through urine tests. The urine tests show if you are losing too much protein in your urine.

[4] Genetic tests related with Nephrotic Syndrome, Type 9 ; 2, Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via the COQ8B/ADCK4 Gene · Nephrotic ...

[5] Dec 18, 2023 — In order to establish the presence of nephrotic syndrome, laboratory tests should confirm (1) nephrotic-range proteinuria, (2) hypoalbuminemia, ...

[6] Feb 22, 2024 — Your doctor can diagnose (identify) nephrotic syndrome by doing a physical examination, asking about the symptoms and doing a urine test to look ...

Based on the provided context, it appears that Nephrotic Syndrome Type 9 (also known as Focal Segmental Glomerulosclerosis or FSGS) is a form of nephrotic syndrome that does not respond to treatment with steroid medication.

Treatment Options:

• Unfortunately, there are limited effective treatments for FSGS, and the disorder often progresses to end-stage renal disease requiring transplantation [6].
• Renal biopsies typically show focal segmental glomerulosclerosis, which is a characteristic feature of this condition [4][6].
• Some studies have investigated the use of RAAS inhibitors in treating SRNS (Steroid-Resistant Nephrotic Syndrome), including FSGS. However, more research is needed to confirm their effectiveness [5].

Current Treatment Approaches:

• Most children with nephrotic syndrome respond well to treatment with prednisolone, but this may not be the case for those with FSGS [7].
• A retrospective study reported that combined treatment with an ACE inhibitor and indomethacin resulted in increased proteinuria reduction, but more research is needed to confirm these findings [8].

Challenges:

• The disorder often progresses to end-stage renal disease requiring transplantation.
• Relapses are common, making it challenging to manage the condition effectively.

It's essential to consult with a healthcare professional for personalized advice on treating FSGS. They can help determine the best course of treatment based on individual circumstances and provide guidance on managing the condition effectively.

References: [4] [6] [7]

Differential Diagnoses for Nephrotic Syndrome Type 9

Nephrotic syndrome type 9, characterized by severe proteinuria (>3.5grams/day), edema, hypoalbuminemia (<3.5mg/dL), and hypercholesterolemia (increased hepatic production due to liver dysfunction), requires a comprehensive differential diagnosis to identify the underlying cause.

Possible Differential Diagnoses:

• Primary Membranous Nephropathy: This is one of the most common causes of nephrotic syndrome in adults, accounting for approximately 70-80% of cases. It is characterized by the presence of antibodies against the M-type phospholipase A2 receptor (PLA2R) [10].
• Focal Segmental Glomerulosclerosis (FSGS): This condition is a leading cause of nephrotic syndrome in children and adults, particularly those with obesity or hypertension. It is characterized by scarring of the glomeruli, which can lead to severe proteinuria [11].
• Minimal Change Disease: This is another common cause of nephrotic syndrome in children, characterized by normal kidney biopsy findings but significant proteinuria.
• Other Rare Causes: These include conditions such as Denys-Drash syndrome, Pierson syndrome, Galloway-Mowat syndrome, and others [8].

Key Considerations:

• A thorough medical history and physical examination are essential to identify potential underlying causes of nephrotic syndrome type 9.
• Laboratory tests, including kidney function tests, proteinuria assessment, and liver function tests, can help narrow down the differential diagnosis.
• Renal biopsy may be necessary in some cases to confirm the diagnosis and guide treatment.

References:

[8] - Context result 8 [10] - Context result 10 [11] - Context result 11