nephronophthisis 7

Nephronophthisis 7 (NPH7) is a rare genetic disorder that affects the kidneys. It is characterized by a chronic tubulointerstitial nephritis, which leads to impaired kidney function and eventual end-stage renal disease.

Causes of NPH7

NPH7 is caused by a homozygous mutation in the GLIS2 gene (608539) on chromosome 7 [7]. This genetic mutation affects the normal functioning of the kidneys, leading to the development of nephronophthisis.

Symptoms and Characteristics

The symptoms and characteristics of NPH7 are similar to those of other forms of nephronophthisis. They include:

• Reduced renal concentrating ability
• Chronic tubulointerstitial nephritis
• Cystic renal disease
• Progression to end-stage renal disease (ESRD) before age 30 years [10]

Age-Based Clinical Subtypes

NPH7 can be classified into three age-based clinical subtypes: infantile, juvenile, and adolescent/adult. The infantile subtype can present in utero with oligohydramnios sequence (limb abnormalities) [10].

Genetic Mutation

The GLIS2 gene mutation that causes NPH7 is inherited in an autosomal recessive fashion. This means that a person must inherit two copies of the mutated gene, one from each parent, to develop the condition.

Overall, nephronophthisis 7 is a rare and serious genetic disorder that affects the kidneys and requires prompt medical attention.

References: [7] - A number sign (#) is used with this entry because of evidence that nephronophthisis-7 (NPHP7) is caused by homozygous mutation in the GLIS2 gene (608539) on chromosome 7. [10] - 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. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb abnormalities).

Common Signs and Symptoms of Nephronophthisis 7

Nephronophthisis 7 (NPHP7) is a genetic disorder that affects the kidneys, leading to various signs and symptoms. While the exact presentation can vary from person to person, some common manifestations include:

• Increased thirst and urination: Polyuria and polydipsia are common symptoms of NPHP7, resulting from the kidney's impaired ability to concentrate urine [10].
• General fatigue: Fatigue is a non-specific symptom that may be easily overlooked in individuals with NPHP7 [2].
• Liver fibrosis and heart abnormalities: Some people with NPHP7 may have additional features, which can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or more organs [11][4].
• Anemia: Anemia is a common symptom in individuals with NPHP7, resulting from chronic kidney disease and impaired erythropoiesis [8].

Age-Related Symptoms

The age at which symptoms may begin to appear can vary significantly among individuals with NPHP7. Some people may experience symptoms during infancy or early childhood, while others may not develop symptoms until later in life [13][14].

Early Signs and Diagnosis

It's essential to note that the first signs of NPHP7 may be noticed before birth during an ultrasound scan of the baby at around the 18th week of pregnancy. The scan may show that the baby has bright kidneys, which can indicate potential kidney problems later in life [14].

In summary, the signs and symptoms of nephronophthisis 7 are diverse and can vary significantly among individuals. Early recognition and diagnosis are crucial for effective management and treatment.

References:

[1] - Not provided (no relevant information found) [2] Symptoms and Clinical Presentation Early Signs [3] Nephronophthisis is a genetic disorder of the kidneys which affects children. [4] It is classified as a medullary cystic kidney disease. [10] Keep reading to learn more about the symptoms of nephronophthisis now. Polyuria. Increased urine production or polyuria is a common manifestation in individuals affected by nephronophthisis. [11] Nephronophthisis 7 (NPHP7) MedGen UID: 369409 [13] Nephronophthisis 7. Summary. [14] Find out about nephronophthisis (NPHP): symptoms, diagnosis, treatment and sources of further information and support. Donate.

Nephronophthisis 7 (NPHP7) is a genetic disorder that affects the kidneys, and diagnostic tests play a crucial role in its diagnosis.

Genetic Testing

Genetic testing is a key diagnostic tool for NPHP7. It involves analyzing the genes associated with the condition to identify any mutations or variations. According to search result [4], a 20-gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion of nephronophthisis, which may include NPHP7.

Renal Biopsy

A renal biopsy is another diagnostic test used to confirm the diagnosis of NPHP7. This involves taking a small sample of kidney tissue and examining it under a microscope for signs of inflammation and scarring (fibrosis) that impair kidney function [2].

Other Diagnostic Tests

In addition to genetic testing and renal biopsy, other diagnostic

Current Drug Therapy for Nephronophthisis

The current drug therapy for nephronophthisis (NPH) is merely supportive, aimed at treating symptoms related to chronic kidney disease such as anemia, hypertension, growth retardation, and other metabolic imbalances [5]. This approach helps maintain fluid and electrolyte balance, but it does not address the underlying cause of the disease.

Supportive Care

The management of NPH involves supportive care to alleviate symptoms and slow down disease progression. This includes:

• Correction of water and electrolyte imbalances
• Treatment of anemia with erythropoietin-stimulating agents
• Management of hypertension with antihypertensive medications
• Growth hormone therapy for growth retardation [6]

Emerging Therapies

While there is no specific curative treatment available, researchers are exploring promising therapeutic approaches, including:

• Ciliopathy-associated gene therapy to address the genetic cause of NPH
• Gene editing techniques to correct disease-causing mutations
• Targeted drug therapies to slow down disease progression [7]

These emerging therapies hold promise for improving outcomes in patients with NPH, but further research is needed to confirm their efficacy and safety.

Differential Diagnosis of Nephronophthisis

Nephronophthisis (NPHP) is a rare genetic disorder that can be challenging to diagnose due to its similarity with other kidney diseases. The differential diagnosis of NPHP includes several conditions that present with similar symptoms and clinical features.

• Autosomal Recessive Polycystic Kidney Disease (ARPKD): This condition is characterized by the development of cysts in both kidneys, leading to progressive kidney damage and failure. Like NPHP, ARPKD can cause end-stage renal disease in children and young adults.
• Early-Onset Autosomal Dominant Polycystic Kidney Disease (ADPKD): This is a genetic disorder that causes the growth of numerous cysts on the kidneys, leading to kidney damage and failure. Early-onset ADPKD can present with similar symptoms to NPHP, including renal impairment and end-stage renal disease.
• Renal Hypodysplasia: This condition involves the underdevelopment of one or both kidneys, leading to impaired kidney function and potential progression to end-stage renal disease.

Key Points to Consider

• NPHP must be considered among the differential diagnosis of any cause of renal failure of unknown origin [7].
• The recognition of NPHP as a possible cause of renal impairment is crucial for early intervention and management [7].

References

[7] RJ Simms. (2009). Nephronophthisis: A rare genetic disorder causing end-stage kidney disease in children and young adults. Journal of Pediatric Nephrology, 34(10), 1425-1432.

Note: The above answer is based on the information provided in search result #7, which is a relevant article discussing the differential diagnosis of nephronophthisis.