nephronophthisis 14

Nephronophthisis 14, also known as NPHP14, is a rare genetic disorder that affects the kidneys and is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and other related symptoms.

Key Features:

• Reduced ability of the kidneys to concentrate solutes [6]
• Chronic tubulointerstitial nephritis [3]
• Cystic renal disease [3]
• Associated with Joubert syndrome, characterized by cerebellar vermian hypoplasia/aplasia, thickened superior cerebellar peduncles, and an abnormal retinal degeneration [5]

Causes:

• Caused by a homozygous mutation in the ZNF423 gene on chromosome 16 [4, 10]
• Autosomal recessive inheritance pattern [8]

Symptoms:

• Impaired kidney function due to inflammation and scarring (fibrosis) [2, 9]
• End-stage kidney disease inevitable [8]

Nephronophthisis 14 is a rare and complex disorder that affects the kidneys and other parts of the body. It is essential for individuals affected by this condition to receive proper medical attention and care.

References: [1] Not applicable [2] Sep 1, 2014 — Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. [3] The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, ... [4] A number sign (#) is used with this entry because nephronophthisis-14 (NPHP14) is caused by homozygous mutation in the ZNF423 gene (604557) on chromosome 16 ... [5] Nephronophthisis 14 is a form of Joubert syndrome, characterized by cerebellar vermian hypoplasia/aplasia, thickened superior cerebellar peduncles, and an ... [6] A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis. [7] Disease Overview. Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene. Synonyms. Joubert syndrome 19 ... [8] Nephronophthisis is an autosomal recessive tubulointerstitial nephropathy in which cysts often develop. It inevitably leads to end-stage kidney disease. [9] Sep 1, 2014 — Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney ... [10] A number sign (#) is used with this entry because nephronophthisis-14 (NPHP14) is caused by

Common Signs and Symptoms of Nephronophthisis

Nephronophthisis, a genetic disorder affecting the kidneys, can manifest in various ways. The symptoms often appear during childhood or adolescence and may progress over time.

• Increased Urination (Polyuria): One of the primary signs is an excessive production of urine, which can lead to frequent urination.
• Excessive Thirst (Polydipsia): Children with NPHP often experience a strong desire for water, leading to poor nutrition and slow growth due to their preference for water over food [6].
• General Weakness: As the disease progresses, individuals may feel weak and tired due to the kidneys' inability to filter waste properly.
• Fatigue: Fatigue is another common symptom, which can be attributed to the body's struggle to maintain proper fluid balance and electrolyte levels.
• Bed-wetting (Nocturnal Enuresis): In some cases, children with NPHP may experience bed-wetting due to their kidneys' inability to regulate urine production during sleep [6].
• Poor Nutrition: The excessive thirst can lead to poor nutrition, as individuals may prioritize drinking water over consuming food.
• Slow Growth: As a result of poor nutrition and increased urination, growth rates may be affected in children with NPHP.

These symptoms can vary in severity and may not always appear simultaneously. Regular monitoring and medical check-ups are essential for early detection and management of the disease [10].

Nephronophthisis 14, also known as NPHP14, is a rare genetic disorder that affects the kidneys. Diagnostic tests for this condition are crucial in confirming the diagnosis and guiding treatment decisions.

Genetic Testing Genetic testing is considered the gold standard for diagnosing nephronophthisis 14. This involves analyzing the genes associated with the condition to confirm a diagnosis. According to [1], genetic testing of the 27 genes associated with nephronophthisis (NPHP) may confirm a diagnosis and help guide treatment and management decisions.

Clinical Molecular Genetics Test A clinical molecular genetics test for Nephronophthisis 14 is available, which uses deletion/duplication analysis, PCR with allele-specific hybridization offered by Centogene AG - the Rare Disease Company [15]. This test can provide valuable information to support informed test selection and diagnosis.

Other Diagnostic Tests While not specifically mentioned in the context provided, other diagnostic tests such as renal biopsy, blood tests for anemia, electrolyte imbalances, and metabolic acidosis may also be used to help diagnose nephronophthisis 14. However, these tests are not as specific or definitive as genetic testing.

References

[1] Invitae Nephronophthisis Panel [15] Clinical Molecular Genetics test for Nephronophthisis 14

Current Drug Therapy for Nephronophthisis

Unfortunately, there is no specific therapy available to treat nephronophthisis (NPH). The current drug therapy is merely supportive, aimed at managing symptoms related to chronic kidney disease. This includes:

• Treatment of anemia
• Management of hypertension
• Correction of growth retardation and other metabolic imbalances

However, researchers are exploring promising therapeutic approaches, including:

• Ciliopathy-associated gene therapy
• Gene editing techniques
• Targeted drug therapies

These emerging treatments hold promise for improving the management of NPH in the future.

Differential Diagnosis of Nephronophthisis

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

• Autosomal Recessive Polycystic Kidney Disease (ARPKD): This condition is characterized by the development of cysts in both kidneys, leading to progressive kidney damage and eventual end-stage renal disease.
• Early-Onset Autosomal Dominant Polycystic Kidney Disease (ADPKD): Although rare, this form of ADPKD can present with similar symptoms to NPHP, including cyst formation and kidney failure.
• Renal Hypodysplasia: This condition involves the underdevelopment of one or both kidneys, leading to impaired kidney function and potential end-stage renal disease.

Other Conditions

In addition to these conditions, other diseases that may be considered in the differential diagnosis for NPHP include:

• Senior-Løken Syndrome: A rare genetic disorder characterized by the combination of nephronophthisis and retinal degeneration.
• Joubert Syndrome: A condition affecting multiple parts of the body, including the kidneys, with symptoms such as neurological problems and other features.

Genetic Considerations

The diagnosis of NPHP often involves genetic testing to identify mutations in one of the several genes associated with this disorder. If no mutations are found, additional NPHP genes should be screened depending on the phenotype, and a differential diagnosis of MCKD, ARPKD, and BBS should be considered.

References

• [4] by F Petzold · 2023 · Cited by 16 — Nephronophthisis is a rare genetic disorder causing end-stage kidney disease in children and young adults. It is characterized by the progressive loss of renal function due to cyst formation and fibrosis.
• [14] Nephronophthisis (NPHP) is an autosomal recessive kidney disorder characterized by chronic tubulointerstitial nephritis and leading to end-stage renal failure.
• [10] DIFFERENTIAL DIAGNOSIS; MANAGEMENT; SUMMARY AND RECOMMENDATIONS; REFERENCES; GRAPHICS. Tables ... 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).