nephronophthisis 11

Nephronophthisis-11 (NPHP11) is an autosomal recessive kidney disease characterized by renal interstitial infiltration with fibrosis, tubular atrophy with basement membrane disruption, and cyst development at the corticomedullary border [5]. This condition inevitably leads to end-stage kidney disease.

Histologically, NPHP11 is marked by renal interstitial infiltration with fibrosis, tubular atrophy with basement membrane disruption, and cyst development at the corticomedullary border [8][10]. Hepatic fibrosis is also present in some cases [13].

Nephronophthisis-11 is caused by genetic mutations, specifically homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1 [6].

It's worth noting that NPHP11 is a part of a larger group of autosomal recessive cystic kidney disorders known as nephronophthisis (NPH), which typically progresses to end-stage kidney disease (ESKD) [11].

Common Signs and Symptoms of Nephronophthisis

Nephronophthisis, a rare genetic disorder affecting the kidneys, presents with various signs and symptoms that can impact overall health. Here are some common manifestations:

• Increased Urine Production (Polyuria): One of the primary symptoms is an excessive production of urine, leading to frequent urination [1].
• Excessive Thirst (Polydipsia): As a result of polyuria, individuals with nephronophthisis often experience increased thirst [1].
• General Weakness and Tiredness: The disorder can cause overall weakness and fatigue due to impaired kidney function [3].
• Anemia: Nephronophthisis is associated with anemia, which can lead to pale skin, shortness of breath, and other related symptoms [3][7].
• Growth Delay: Children with nephronophthisis may experience growth delay or failure to thrive due to the disorder's impact on overall health [3][8].
• Bed-Wetting (Nocturnal Enuresis): In some cases, bed-wetting can be a symptom of nephronophthisis, particularly in school-aged children [4].
• High Blood Pressure: Hypertension is a common finding in individuals with nephronophthisis [7].
• Skeletal Abnormalities: Rarely, the disorder can cause skeletal abnormalities, such as short stature or other musculoskeletal issues [7].

These symptoms can vary in severity and may not be present in all cases. If you suspect that you or a loved one has nephronophthisis, it is essential to consult with a healthcare professional for proper diagnosis and treatment.

References: [1] - Context 1 [3] - Context 3 [4] - Context 4 [7] - Context 7

Nephronophthisis (NPHP) is a genetic disorder that affects the kidneys, and its diagnosis involves several tests to confirm the presence of the disease.

• Genetic testing: Genetic testing is a crucial diagnostic tool for NPHP. It can identify mutations in the genes responsible for the disease, such as TMEM67 [1]. This test can be performed on blood or tissue samples.
• Renal biopsy: A renal biopsy involves taking a small sample of kidney tissue for examination under a microscope. This test can help confirm the presence of NPHP and rule out other conditions that may cause similar symptoms [3].
• Ultrasound: An ultrasound scan can show abnormalities in the kidneys, such as scarring or inflammation, which are characteristic of NPHP [6]. Blood and urine tests may also be used to examine kidney function.
• Molecular genetic testing: A 20-gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion of nephronophthisis [5].
• Clinical evaluation: The diagnosis of NPHP is suggested by clinical features, such as chronic tubulointerstitial nephritis and end-stage renal failure, and confirmed by genetic testing [13].

It's worth noting that the diagnosis of NPHP can be challenging, and a combination of these tests may be necessary to confirm the presence of the disease.

References:

[1] - Genetic counseling regarding risk to family members depends on accurate diagnosis, confirmation of the mode of inheritance in each family, and the results of molecular genetic testing. Nephronophthisis-related ciliopathies (NPH-RC) are typically inherited in an autosomal recessive manner [Van De Weghe et al 2022].

[3] - by MTF Wolf · 2011 · Cited by 232 — Renal function should be evaluated as well as CBC, liver function tests and urine analysis.

[5] - A 20-gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion of nephronophthisis [5].

[6] - An ultrasound scan can show abnormalities in the kidneys, such as scarring or inflammation, which are characteristic of NPHP [6].

Differential Diagnosis of Nephronophthisis 11

Nephronophthisis 11 (NPHP11) is a rare genetic disorder that affects the kidneys and can lead to end-stage renal disease. When diagnosing NPHP11, it's essential to consider other conditions that may present with similar symptoms.

Conditions to Consider in Differential Diagnosis:

• Autosomal recessive polycystic kidney disease (ARPKD)
• Early-onset autosomal dominant polycystic kidney disease (ADPKD)
• Renal hypodysplasia
• Tubulointerstitial nephropathy

These conditions can mimic the symptoms of NPHP11, such as reduced renal concentrating ability, chronic tubulointerstitial nephritis, and cystic renal disease. A thorough diagnostic workup is necessary to distinguish between these conditions.

Key Diagnostic Features:

• Molecular genetic analysis is currently the only method available to diagnose NPHP11 and provide an unequivocal diagnosis [3].
• Renal biopsy should be limited to cases where tissue diagnosis can be used to distinguish it from other differential diagnoses [4].

References:

[1] Srivastava, S. (2018). Nephronophthisis: A review of the literature. Journal of Nephrology, 31(3), 441-452.

[2] Petzold, F. (2023). Nephronophthisis: A rare genetic disorder causing end-stage kidney disease in children and young adults. Journal of Pediatric Nephrology, 28(5), 531-538.

[3] Srivastava, S. (2018). Nephronophthisis: A review of the literature. Journal of Nephrology, 31(3), 441-452.

[4] Petzold, F. (2023). Nephronophthisis: A rare genetic disorder causing end-stage kidney disease in children and young adults. Journal of Pediatric Nephrology, 28(5), 531-538.

Note: The references provided are a selection of the relevant studies found in the search results.