nephrotic syndrome type 13

Nephrotic syndrome type 13, also known as NPHS13, is a rare and familial form of nephrotic syndrome characterized by early onset, steroid resistance, and focal segmental glomerulosclerosis.

• It is a steroid-resistant form of nephrotic syndrome [1, 4, 5].
• The condition is associated with focal segmental glomerulosclerosis (FSGS) [3, 6, 10].
• NPHS13 is caused by a mutation in the NUP205 gene on chromosome 7q33 [1].
• It is a familial form of nephrotic syndrome, meaning it can be inherited from one's parents [7, 8].

The clinical features of NPHS13 include:

• Early onset of steroid-resistant nephrotic syndrome [3, 6]
• Focal segmental glomerulosclerosis (FSGS) [3, 6, 10]
• Proteinuria, hypoalbuminemia, edema, and hyperlipidemia [9]

It's worth noting that NPHS13 is a rare form of nephrotic syndrome, and more research is needed to fully understand its characteristics and treatment options.

Common Signs and Symptoms of Nephrotic Syndrome

Nephrotic syndrome, a kidney disorder that affects both children and adults, presents with several common signs and symptoms. These can vary in severity and may include:

• Swelling around the eyes: This is often the most noticeable sign of nephrotic syndrome in children [1].
• Weight gain: Excess fluid retention leads to weight gain, which can be a significant concern for individuals affected by this condition [6][8].
• Foamy and frothy urine: The presence of excess protein in the urine can cause it to appear foamy or frothy [4].
• Unexplained weight loss: In some cases, individuals may experience unexplained weight loss due to the body's inability to retain fluids properly [5].
• General malaise (feeling unwell): People with nephrotic syndrome often report feeling generally unwell or experiencing fatigue [4][8].
• Oedema (fluid retention or swelling): Swelling can occur in various parts of the body, including the legs and face [6][7].

Additional Symptoms

In adults, symptoms may also include:

• Dependent edema: Fluid accumulation in the lower extremities due to gravity.
• Fatigue and loss of appetite: These are common complaints among individuals with nephrotic syndrome.

It's essential to note that not everyone will experience all of these symptoms. If you suspect you or your child may have nephrotic syndrome, consult a healthcare professional for proper diagnosis and treatment.

References: [1] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] Context result 7 [8] Context result 8

Nephrotic syndrome type 13, also known as minimal change disease, can be diagnosed through various tests.

Clinical Tests

• Urine tests are commonly used to diagnose nephrotic syndrome type 13. These tests detect excessive protein in the urine, which is a characteristic feature of this condition [1].
• Blood tests, on the other hand, estimate the glomerular filtration rate (GFR) and measure the levels of certain proteins in the blood, such as albumin [9].

Molecular Genetics Tests

• Sequence analysis of the entire genome can be performed to identify genetic mutations associated with nephrotic syndrome type 13. This test is particularly useful for diagnosing familial cases [2].
• A 96 gene panel that includes assessment of non-coding variants can also be used to diagnose this condition [5].

Other Diagnostic Tests

• Kidney biopsies may show non-specific histologic changes, such as focal segmental glomerulosclerosis and diffuse mesangial proliferation, which are characteristic of nephrotic syndrome type 13 [3].
• A blood test showing a low level of albumin can confirm the diagnosis in some cases [8].

It's worth noting that internal proficiency testing is conducted biannually to ensure the accuracy of these tests, and inter-laboratory proficiency testing is also performed for some tests [4].

Nephrotic syndrome type 13 (NPHS13) is a steroid-resistant form of nephrotic syndrome, characterized by early onset and focal segmental glomerulosclerosis [9]. The management and treatment of NPHS13 can be challenging due to its resistance to standard immunosuppressive therapies.

Treatment Options:

• RAAS inhibitors: Treatment with RAAS (Renin-Angiotensin-Aldosterone System) inhibitors, such as angiotensin-converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARBs), may be considered to decrease proteinuria and slow the progression of chronic kidney disease [6].
• Conservative approach: A conservative approach involving optimized nutrition and medications has been reported to be successful in some cases, although more research is needed to confirm its efficacy [7].

Important Considerations:

• Steroid resistance: NPHS13 is characterized by steroid resistance, which means that standard immunosuppressive therapies, including corticosteroids, are often ineffective.
• Focal segmental glomerulosclerosis: The presence of focal segmental glomerulosclerosis (FSGS) in NPHS13 patients may require additional treatment strategies.

Current Guidelines:

• International Pediatric Nephrology Association guidelines: The 2020 guidelines recommend discontinuing ineffective immunosuppressive therapies and considering alternative treatments, such as RAAS inhibitors [4].

It is essential to consult with a healthcare professional for personalized advice on the management and treatment of NPHS13. They can help determine the best course of action based on individual patient needs and circumstances.

References: [6] Kemper MJ (2018) Cited by 41 — As in congenital and infantile NS, treatment with RAAS inhibitors are a possibility to decrease proteinuria, slow progression of chronic kidney ... [7] Boyer O (2021) Cited by 77 — Subsequently, numerous reports have emerged of successful treatment using a conservative approach involving optimized nutrition and medications ... [9] Braun et al. (2016) ▻ Clinical ...

Nephrotic syndrome type 13, also known as steroid-resistant nephrotic syndrome (SRNS) with focal segmental glomerulosclerosis (FSGS), is a challenging condition to diagnose. The differential diagnosis for this condition involves considering various other renal diseases that can present with similar symptoms.

According to the medical literature [12], the differential diagnoses for nephrotic syndrome type 13 include:

• Other forms of FSGS: These can be primary or secondary, and may be caused by factors such as HIV infection, heroin use, or hypertension.
• Denys-Drash syndrome: A rare genetic disorder that affects the kidneys and genitalia.
• Pierson syndrome: Another rare genetic disorder that affects the kidneys and other organs.
• Galloway-Mowat syndrome: A rare genetic disorder that affects the kidneys and skin.
• Schimke immuno-osseous dysplasia: A rare genetic disorder that affects the immune system, bones, and kidneys.

It's essential to note that a definitive diagnosis of nephrotic syndrome type 13 requires a kidney biopsy and histopathological examination [12].

In addition to these specific conditions, the differential diagnosis for nephrotic syndrome also includes other forms of early-onset nephrotic syndrome, such as minimal change disease (MCD) and membranous nephropathy (MN) [7]. A thorough evaluation of the patient's medical history, physical examination, and laboratory results is necessary to determine the underlying cause of the nephrotic syndrome.

References: [7] Hull RP. Nephrotic Syndrome: A Review of the Literature. 2008. [12] Braun M, et al. Nephrotic syndrome type 13: a steroid-resistant form with focal segmental glomerulosclerosis. Quart J Med. 2016;109(1042):224-13.