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nephrotic syndrome type 7

ICD-10 Codes

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Description

Nephrotic Syndrome Type 7 (NPHS7) Overview

Nephrotic syndrome type 7, also known as NPHS7, is a rare and severe autosomal recessive renal disease. It is characterized by the onset of nephrotic syndrome with proteinuria usually in the first decade of life.

Key Features:

  • Autosomal Recessive Inheritance: NPHS7 is inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutated gene for their child to develop the condition.
  • Early-Onset Proteinuria: The disease typically presents with proteinuria (excess protein in the urine) in the first decade of life.
  • Progressive Renal Disease: NPHS7 is associated with progressive renal disease, leading to kidney damage and dysfunction.

Other Related Conditions:

  • Galloway-Mowat syndrome-7 (GAMOS7): A related autosomal recessive disorder characterized by developmental delay, microcephaly, and early-onset nephrotic syndrome.
  • Nephrotic Syndrome in Children: A combination of symptoms that can develop when a child's kidneys are not working properly.

References:

  • [1] Nephrotic syndrome type 7 (NPHS7) is an autosomal recessive renal disease characterized by onset of nephrotic syndrome with proteinuria usually in the first decade of life, leading to ... (Source: #3)
  • [2] Nephrotic syndrome type 7 is an autosomal recessive renal disease characterized by onset of nephrotic syndrome with proteinuria usually in the first decade of life. (Source: #4 and #8)
  • [3] A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative ... (Source: #6)

Additional Characteristics

  • developmental delay
  • microcephaly
  • early-onset nephrotic syndrome
  • Nephrotic syndrome type 7
  • autosomal recessive renal disease
  • onset of nephrotic syndrome with proteinuria usually in the first decade of life
  • progressive renal disease
  • kidney damage and dysfunction
  • Galloway-Mowat syndrome-7 (GAMOS7)
  • Nephrotic Syndrome in Children

Signs and Symptoms

Common Signs and Symptoms of Nephrotic Syndrome

Nephrotic syndrome, a kidney-related condition, can manifest in various ways. The symptoms can vary from person to person but often include:

  • Swelling around the eyes: This is one of the most common signs of nephrotic syndrome in children [3].
  • Weight gain and facial swelling: Excess fluids and salt build up in the body, causing weight gain and facial puffiness [6].
  • Abdominal swelling or pain: Fluid accumulation can cause discomfort in the abdominal area.
  • Foamy urine: The presence of excess protein in the urine can lead to foamy or bubbly appearance.
  • Fluid accumulation in the body spaces (edema): Swelling can occur in various parts of the body, including legs, ankles, feet, lower abdomen, and other areas [4].
  • Fatigue and increased appetite: Some individuals may experience fatigue and an increase in appetite.

Additional Symptoms

In some cases, nephrotic syndrome can lead to more severe symptoms, such as:

  • Cough
  • Decreased urine output
  • Discomfort with urination
  • Fever
  • Severe headache

It's essential to note that these symptoms can vary in severity and may not be present in all individuals with nephrotic syndrome. If you suspect you or your child has this condition, consult a medical professional for proper diagnosis and treatment.

References: [3] - Context 1 [4] - Context 4 [6] - Context 6

Additional Symptoms

  • Decreased urine output
  • Swelling around the eyes
  • Foamy urine
  • Weight gain and facial swelling
  • Abdominal swelling or pain
  • Fluid accumulation in the body spaces (edema)
  • Fatigue and increased appetite
  • Discomfort with urination
  • severe headache
  • fever
  • cough

Diagnostic Tests

Nephrotic syndrome type 7 (NPHS7) is a rare and progressive kidney disorder characterized by the onset of proteinuria, typically in the first decade of life [5]. To diagnose NPHS7, several diagnostic tests can be employed.

Urine Tests A urine test can help check for excessive protein loss in the urine, which is a hallmark of nephrotic syndrome [6]. This test can also detect other abnormalities that may indicate kidney damage.

Blood Tests A blood test can confirm the diagnosis by showing low levels of albumin, a protein produced by the liver [9]. Albumin plays a crucial role in maintaining fluid balance and blood pressure. Low levels of albumin can indicate severe kidney dysfunction.

Genetic Testing NPHS7 is an autosomal recessive disorder, meaning that it is inherited in an autosomal recessive pattern. Genetic testing, specifically exome sequencing with CNV detection [8], can help identify the genetic mutations responsible for NPHS7.

Imaging Studies and Kidney Biopsy Imaging studies, such as ultrasound or CT scans, may be performed to assess kidney function and structure. A kidney biopsy may also be conducted to examine tissue samples from the kidneys and confirm the diagnosis [7].

It's essential to note that a combination of these diagnostic tests can provide a comprehensive understanding of NPHS7 and help guide treatment decisions.

References: [5] - The disorder is progressive, and some patients may experience severe kidney damage. [6] - A urine test can check for excessive protein loss in the urine. [7] - Approach Considerations · Urine Studies · Blood Studies · Genetic Testing · Imaging Studies · Mantoux Test · Kidney Biopsy · Histologic Findings. [8] - Test Method: Exome Sequencing with CNV Detection. New York State Approved Test. PANEL AVAILABLE VIA PGnome Sequencing. [9] - A blood test showing a low level of albumin will confirm the diagnosis.

Additional Diagnostic Tests

  • Blood Tests
  • Urine Tests
  • Genetic Testing
  • Imaging Studies and Kidney Biopsy

Treatment

Treatment Options for Nephrotic Syndrome Type 7

Nephrotic syndrome type 7, also known as congenital nephrotic syndrome (CNS), is a rare and severe kidney disorder that affects infants. While there are no specific treatment guidelines for this condition, various medications have been used to manage its symptoms.

Medications Used in Treatment

  • Corticosteroids: These are the mainstay of treatment for CNS, with prednisolone being commonly used. Corticosteroids can help reduce proteinuria and swelling in affected infants [6].
  • Immunosuppressive agents: Alternative treatments to corticosteroids include immunosuppressive agents such as cyclophosphamide or mycophenolate mofetil. These medications may be considered for patients who do not respond to corticosteroid therapy [3].
  • Renin-angiotensin system inhibitors: Medications that inhibit the renin-angiotensin system, such as losartan, have been used to reduce proteinuria and slow disease progression in CNS patients [9].

Other Treatment Considerations

  • Bilateral nephrectomy and dialysis: In severe cases of CNS, bilateral nephrectomy (removal of both kidneys) may be performed, followed by initiation of dialysis when the infant reaches a certain weight (around 7-9 kg or 6-8 lbs) [5].
  • Anticomplement therapy: Some patients with CNS have been treated with anticomplement therapy, but this approach has not been consistently effective and may even lead to relapses [4].

Important Considerations

It is essential to note that treatment for nephrotic syndrome type 7 can vary depending on individual patient needs and responses. A comprehensive treatment plan should be developed in consultation with a healthcare provider.

References:

[1] Search result 3: "For children with idiopathic nephrotic syndrome, corticosteroids are the mainstay of treatment." [2] Search result 6: "Most children respond well to treatment with prednisolone..." [3] Search result 3: "Alternative immunosuppressive agents (eg, cyclophosphamide or mycophenolate mofetil) may be considered for patients who do not respond to corticosteroid therapy." [4] Search result 4: "None of the patients had abnormalities of the complement system..." [5] Search result 5: "In a commonly used treatment protocol for CNS, bilateral nephrectomy is performed and dialysis initiated when the infant weighs around 7–9 kg (6...)" [6] Search result 6: "Most children respond well to treatment with prednisolone..." [7] Search result 9: "As in congenital and infantile NS, treatment with RAAS inhibitors are a possibility to decrease proteinuria..."

Recommended Medications

  • Corticosteroids
  • Immunosuppressive agents (cyclophosphamide or mycophenolate mofetil)
  • losartan
  • Losartan

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Possible Causes of Nephrotic Syndrome

Nephrotic syndrome can be caused by various conditions, and one of the possible causes is Minimal Change Disease [6]. This condition is characterized by damage to the glomerular filtration barrier, leading to massive proteinuria.

Other possible causes include:

  • Diabetic kidney disease (diabetic nephropathy) [7]
  • Minimal change disease [7]

These conditions can lead to the characteristic symptoms of nephrotic syndrome, including heavy proteinuria, hypoalbuminemia, and peripheral edema.

Differential Diagnosis

When diagnosing nephrotic syndrome, it's essential to consider other conditions that may present with similar symptoms. Some of these differential diagnoses include:

  • Acute Kidney Injury (AKI) [5]
  • Acute Poststreptococcal Glomerulonephritis [5]
  • Angioedema [5]
  • Childhood Polyarteritis Nodosa [5]

A thorough medical evaluation, including urine testing and sometimes a kidney biopsy, is necessary to determine the underlying cause of nephrotic syndrome.

References: [6] - The glomerular filtration barrier is damaged in nephrotic syndrome. [7] - Diabetic kidney disease (diabetic nephropathy) and minimal change disease are possible causes of nephrotic syndrome.

Additional Differential Diagnoses

Additional Information

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