nephrotic syndrome type 21

Nephrotic Syndrome Type 21 (NPHS21) Description

Nephrotic syndrome type 21, also known as NPHS21, is a rare and severe autosomal recessive renal disorder that affects the kidneys. It is characterized by:

• Onset in early childhood: The condition typically manifests within the first year of life.
• Rapidly progressive kidney dysfunction: The disorder leads to a rapid decline in kidney function, ultimately resulting in end-stage renal disease (ESRD).
• Proteinuria: Laboratory studies show significant protein loss in the urine.
• Diffuse mesangial sclerosis: Renal biopsy reveals diffuse mesangial sclerosis, a characteristic histological feature of NPHS21.

According to multiple sources [1, 2, 4, 5, 10], this condition is inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutated gene for their child to develop the disorder. The exact genetic cause of NPHS21 is not specified in the provided context.

NPHS21 is a rare and severe form of nephrotic syndrome, with a poor prognosis. Early diagnosis and treatment are crucial to manage the condition effectively [9].

References:

[1] Context result 1: Nephrotic syndrome type 21 (NPHS21) is an autosomal recessive renal disorder characterized by onset of kidney dysfunction in the first year of life.

[2] Context result 2: Nephrotic syndrome type 21 (NPHS21) is an autosomal recessive renal disorder characterized by onset of kidney dysfunction in the first year of life.

[4] Context result 4: Nephrotic syndrome type 21 (NPHS21) is an autosomal recessive renal disorder characterized by onset of kidney dysfunction in the first year of life.

[5] Context result 5: A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis.

[10] Context result 10: Nephrotic syndrome type 21 (NPHS21) is an autosomal recessive renal disorder characterized by onset of kidney dysfunction in the first year of life.

Common Signs and Symptoms of Nephrotic Syndrome

Nephrotic syndrome is a kidney disorder that can cause various symptoms, which may vary in severity and frequency. Here are some common signs and symptoms associated with this condition:

• Swelling (Edema): This is the most noticeable symptom, especially around the eyes, face, fingers, legs, and abdomen. The swelling can be worse first thing in the morning and may improve throughout the day.
• Foamy Urine: Excessive protein in the urine can cause it to appear foamy or bubbly.
• Weight Gain and Fluid Retention: Nephrotic syndrome can lead to fluid retention, causing weight gain and swelling in various parts of the body.
• Fatigue and Loss of Appetite: Many people with nephrotic syndrome experience fatigue and a decrease in appetite.
• High Blood Pressure: This is another common symptom associated with nephrotic syndrome.

According to [3], swelling around the eyes is the most common sign of nephrotic syndrome in children. In adults, dependent edema (swelling in the legs) is more common, along with fatigue and loss of appetite [6].

It's essential to note that these symptoms can vary from person to person, and not everyone will experience all of them. If you're experiencing any of these symptoms, it's crucial to consult a healthcare professional for proper diagnosis and treatment.

References:

[3] Swelling around the eyes is the most common sign of nephrotic syndrome in children. [6] Adults can present with dependent edema, fatigue, and loss of appetite.

Nephrotic syndrome type 21 (NPHS21) can be diagnosed through various tests and procedures, which are aimed at confirming the presence of kidney dysfunction and identifying the underlying cause.

Laboratory Studies

• Proteinuria: Laboratory studies show proteinuria, which is an excess of protein in the urine. This is a key feature of nephrotic syndrome type 21.
• Renal Biopsy: A renal biopsy shows diffuse mesangial sclerosis, which is a characteristic histological finding in NPHS21.

Urine Tests

• Urinalysis tests can reveal abnormalities in the urine, such as large amounts of protein. Your healthcare provider may recommend a few different types of urinalysis tests.
• 24-hour urine collection: You might be asked to collect urine samples over 24 hours to assess the amount of protein lost in the urine.

Blood Tests

• Blood tests can show low levels of albumin and often decreased levels of blood protein overall, which is a hallmark of nephrotic syndrome type 21.
• Cholesterol and lipid profiles: Blood tests may also reveal elevated cholesterol and lipid levels due to the loss of albumin in the urine.

Other Diagnostic Tests

• Kidney biopsy: A kidney biopsy may be performed to confirm the diagnosis and rule out other causes of kidney disease.
• Imaging studies: Imaging studies, such as ultrasound or CT scans, may be used to assess the size and structure of the kidneys.

According to [1], laboratory studies show proteinuria and renal biopsy shows diffuse mesangial sclerosis. The disorder is rapidly progressive and ultimately results in end-stage renal disease. Urine tests, including urinalysis and 24-hour urine collection, can also help diagnose nephrotic syndrome type 21 ([2], [3]). Blood tests, such as those to check cholesterol and lipid levels, may also be performed to confirm the diagnosis ([4], [5]).

References: [1] Context result 4 [2] Context result 10 [3] Context result 3 [4] Context result 5 [5] Context result 9

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

Medications Used in Nephrotic Syndrome

• Corticosteroids, such as prednisolone, are commonly used to treat children with primary nephrotic syndrome [3].
• Calcineurin inhibitors, like cyclosporine and tacrolimus, may be used as a second-line treatment when corticosteroids fail [2].
• Lipid-lowering agents, including statins (except rosuvastatin), bile acid sequestrants, fibrates, nicotinic acid, and ezetimibe, can help control hyperlipidemia associated with nephrotic syndrome [1].
• Rituximab has been explored as an alternative to current immunosuppressive therapies for difficult-to-treat cases [4].
• Conventional therapies include treatment with steroids, ACE inhibitors, and monoclonal antibodies, but there is no universal treatment for the condition yet [5].

Other Treatment Options

• Blood pressure medications may be prescribed to help control high blood pressure associated with nephrotic syndrome [9].
• Renin–angiotensin system inhibitors, diuretics, anticoagulation, and infection prophylaxis are recommended in certain cases [8].
• Lifestyle changes, such as dietary modifications, can also be part of the treatment plan to help manage symptoms and complications [15].

It's essential to note that each case of nephrotic syndrome is unique, and treatment plans may vary depending on individual factors. Consultation with a healthcare professional is necessary to determine the best course of treatment.

References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [8] Context result 8 [9] Context result 9 [15] Context result 15

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]

Additionally, other conditions that may be considered in the differential diagnosis of nephrotic syndrome include:

• Acute Kidney Injury (AKI) [4]
• Acute Poststreptococcal Glomerulonephritis [4]
• Angioedema [4]
• Childhood Polyarteritis Nodosa [4]

It's worth noting that the differential diagnosis of nephrotic syndrome can be complex and may involve a combination of clinical, laboratory, and radiological findings. A definitive diagnosis is typically made based on urine testing and sometimes a kidney biopsy [6].

References: [1] Not applicable [2] Common differential diagnoses of nephrotic syndrome include minimal change nephropathy, FSGS, membranous nephropathy, diabetic nephropathy, ... [3] Not applicable [4] Differential Diagnoses · Acute Kidney Injury (AKI) · Acute Poststreptococcal Glomerulonephritis · Angioedema · Childhood Polyarteritis Nodosa. [5] Not applicable [6] Diagnosis is typically based on urine testing and sometimes a kidney biopsy. It differs from nephritic syndrome in that there are no red blood cells in the ...