nephronophthisis 15

Nephronophthisis 15 (NPHP15) Description

Nephronophthisis 15, also known as NPHP15, is a rare genetic disorder that affects the kidneys. It is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years [1][2].

This condition is one of the three age-based clinical subtypes of nephronophthisis, which includes infantile, juvenile, and adolescent/adult forms. NPHP15 is caused by homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q23 [5][6].

Individuals with NPHP15 often experience symptoms such as reduced renal concentrating ability, chronic tubulointerstitial nephritis, and cystic renal disease. The condition inevitably leads to end-stage kidney disease [8][9]. It is essential for individuals affected by this disorder to receive proper medical attention and care to manage their symptoms and slow down the progression of the disease.

References:

[1] Nephronophthisis 15 (NPHP15) - GeneReviews Overview [2] The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. [5] Nephronophthisis-15 (NPHP15) is caused by homozygous or compound heterozygous mutation in the CEP164 gene (614848) on chromosome 11q23. [6] Nephronophthisis 15 is an autosomal recessive disorder characterized by nephronophthisis, Leber congenital amaurosis, and retinal degeneration leading to ... [8] Nephronophthisis is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when ... [9] Nephronophthisis (NPHP) is a clinical condition caused by a group of autosomal recessive cystic kidney disorders that typically progresses to end-stage kidney disease (ESKD).

Common Signs and Symptoms of Nephronophthisis

Nephronophthisis, a genetic disorder affecting the kidneys, presents with various signs and symptoms that can be subtle and develop slowly over time. The typical clinical symptoms include:

• Polyuria: Increased urine production due to impaired kidney function [3]
• Polydipsia: Excessive thirst despite regular fluid intake [3]
• Impaired sodium reabsorption: Leading to hypovolemia (low blood volume) and hyponatremia (low sodium levels in the blood) [3]
• General weakness and extreme tiredness due to chronic kidney disease [1]
• Growth retardation in children, indicating impaired growth hormone regulation [2]
• Chronic iron-resistant anemia, which can be severe despite adequate iron supplementation [4]
• Secondary enuresis (bedwetting) may also occur in some cases [4]

Additionally, nephronophthisis can present with extra-renal manifestations, such as:

• Blindness: In syndromes like Senior-Løken syndrome [9]
• Liver problems: Such as cirrhosis or liver failure [9]
• Metabolic acidosis: A condition characterized by excessive acidity in the blood [10]
• Nausea, anorexia (loss of appetite), and weakness due to progressive renal insufficiency [10]

These symptoms can vary in severity and may not be immediately apparent, making early diagnosis challenging.

Diagnostic Tests for Nephronophthisis 15

Nephronophthisis 15 (NPHP15) is a rare genetic disorder characterized by kidney disease, blindness, and retinal degeneration. Diagnosing this condition can be challenging, but various diagnostic tests are available to confirm the diagnosis.

• Genetic Testing: Genetic testing plays a crucial role in diagnosing NPHP15. Identifying mutations in the CEP164 gene confirms the diagnosis and allows for genetic counseling and family planning [12].
• Exome-First Approach: An exome-first approach can aid in the diagnosis of primary ciliary dyskinesia, which is associated with NPHP15 [5].
• Kidney Biopsy: A kidney biopsy may be necessary to confirm the diagnosis, especially in cases where genetic testing is inconclusive [8].
• Clinical Genetic Test: Clinical genetic tests, such as those offered by Intergen, can also aid in diagnosing NPHP15 by analyzing genes associated with nephronophthisis [1].

Additional Diagnostic Tests

While not specific to NPHP15, the following diagnostic tests may be used to rule out other conditions or confirm a diagnosis of nephronophthisis:

• Medical History and Physical Examination: A thorough medical history and physical examination can help identify clinical features associated with nephronophthisis [6].
• Laboratory Testing: Laboratory testing, including blood work and imaging studies, may be used to rule out other conditions or confirm a diagnosis of nephronophthisis [5].

References

[1] Clinical Genetic Test offered by Intergen for conditions (Nephronophthisis 15); Testing genes (CEP164) [context: 1] [5] An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia. [context: 5] [6] Medical History and Physical Examination. [context: 6] [8] Kidney Biopsy. [context: 8] [12] Genetic testing plays a pivotal role in diagnosing nephronophthisis. [context: 12]

Note: The references provided are based on the context information retrieved from the search engine.

Based on the search results, here are some points related to drug treatment for Nephronophthisis (NPH):

1. Current supportive therapy: Current drug therapy for NPH is merely supportive, aimed at treating symptoms such as anemia, hypertension, growth retardation, and other metabolic imbalances.
2. No specific therapy available: There is no specific therapy or cure for NPH. Management is focused on maintaining fluid and metabolic balance.
3. Promising therapeutic approaches: Researchers are exploring promising therapeutic approaches, including:
   • Ciliopathy-associated gene therapy
   • Gene editing techniques (e.g., CRISPR)
   • Targeted drug therapies
4. Testing candidate drugs: A study at Newcastle University is testing a panel of candidate drugs to find a treatment for NPH.
5. Limited information available: The search results suggest that there is limited information available on the specific drug treatments for NPH.

Please note that these points are based on the search results and may not be comprehensive or up-to-date. If you have any further questions, feel free to ask!

Differential Diagnosis of Nephronophthisis

Nephronophthisis (NPH) is a rare genetic disorder that can be challenging to diagnose due to its similarity with other kidney diseases. The differential diagnosis of NPH includes several conditions that can mimic its symptoms.

• Autosomal Dominant Polycystic Kidney Disease (ADPKD): This is a genetic disorder characterized by the growth of numerous fluid-filled cysts in the kidneys, leading to kidney failure. ADPKD can present with similar symptoms to NPH, such as progressive kidney disease and extrarenal manifestations [5].
• Autosomal Recessive Polycystic Kidney Disease (ARPKD): This is another genetic disorder that affects the kidneys, causing cysts to form in the renal tubules. ARPKD can present with similar symptoms to NPH, such as kidney failure and extrarenal manifestations [5].
• Congenital Anomalies: Certain congenital anomalies of the kidneys or urinary tract can mimic the symptoms of NPH.
• Tubulopathies: These are a group of rare genetic disorders that affect the renal tubules, leading to impaired kidney function. Tubulopathies can present with similar symptoms to NPH [1].
• Mucopolysaccharidosis (MPS): This is a group of genetic disorders caused by the deficiency of enzymes needed for the breakdown and recycling of sugar molecules. MPS can cause kidney disease and other systemic manifestations that may be mistaken for NPH [12].

It's essential to note that the diagnosis of NPH requires a comprehensive evaluation, including clinical presentation, family history, imaging studies, and molecular genetic analysis.

References:

[1] Salomon R (2009) - Nephronophthisis: A review of the literature. Cited by 264 [3] [5] Luo F (2018) - Early onset autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease: A review of the literature. Cited by 10 [12] Filson AJ, et al. (2004) - Renal cysts of inv/inv mice resemble early infantile nephronophthisis. J Am Soc Nephrol. 15(1744–1755). doi: 10.1097/01.asn.0000131520.