Juvenile nephronophthisis: Difference between revisions
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{{Infobox medical condition | |||
| name = Juvenile nephronophthisis | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Juvenile nephronophthisis is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = NPHP | |||
| specialty = [[Nephrology]] | |||
| symptoms = [[Polyuria]], [[polydipsia]], [[anemia]], [[growth retardation]] | |||
| complications = [[End-stage renal disease]] | |||
| onset = Childhood | |||
| duration = Progressive | |||
| types = Infantile, Juvenile, Adolescent | |||
| causes = Genetic mutations in [[NPHP1]], [[NPHP3]], [[NPHP4]], etc. | |||
| risks = Family history of the condition | |||
| diagnosis = [[Ultrasound]], [[genetic testing]] | |||
| differential = [[Medullary cystic kidney disease]], [[chronic kidney disease]] | |||
| prevention = Genetic counseling | |||
| treatment = [[Supportive care]], [[kidney transplant]] | |||
| medication = None specific | |||
| prognosis = Variable, often leads to [[end-stage renal disease]] | |||
| frequency = Rare | |||
}} | |||
'''Juvenile nephronophthisis''' is a rare, inherited [[kidney]] disorder that primarily affects children and young adults. It is characterized by the inflammation and scarring of the [[nephrons]], the functional units within the kidneys that are responsible for filtering waste from the blood and producing urine. This condition is a form of [[cystic kidney disease]], where cysts develop in the kidneys as the disease progresses. Juvenile nephronophthisis is the most common genetic cause of [[chronic kidney disease]] (CKD) in children and adolescents. | '''Juvenile nephronophthisis''' is a rare, inherited [[kidney]] disorder that primarily affects children and young adults. It is characterized by the inflammation and scarring of the [[nephrons]], the functional units within the kidneys that are responsible for filtering waste from the blood and producing urine. This condition is a form of [[cystic kidney disease]], where cysts develop in the kidneys as the disease progresses. Juvenile nephronophthisis is the most common genetic cause of [[chronic kidney disease]] (CKD) in children and adolescents. | ||
==Causes== | ==Causes== | ||
Juvenile nephronophthisis is primarily caused by mutations in the [[NPHP1]] gene, although mutations in other genes have also been associated with the disease. It is inherited in an [[autosomal recessive]] manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the condition. | Juvenile nephronophthisis is primarily caused by mutations in the [[NPHP1]] gene, although mutations in other genes have also been associated with the disease. It is inherited in an [[autosomal recessive]] manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the condition. | ||
==Symptoms== | ==Symptoms== | ||
The symptoms of juvenile nephronophthisis often begin in early childhood, although they can vary widely in severity and onset. Common symptoms include excessive thirst and urination, growth retardation, and fatigue. As the disease progresses, it can lead to more serious complications such as [[anemia]], bone abnormalities, and ultimately, end-stage kidney disease (ESKD), necessitating [[dialysis]] or a [[kidney transplant]]. | The symptoms of juvenile nephronophthisis often begin in early childhood, although they can vary widely in severity and onset. Common symptoms include excessive thirst and urination, growth retardation, and fatigue. As the disease progresses, it can lead to more serious complications such as [[anemia]], bone abnormalities, and ultimately, end-stage kidney disease (ESKD), necessitating [[dialysis]] or a [[kidney transplant]]. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of juvenile nephronophthisis typically involves a combination of clinical evaluation, family history, genetic testing, and imaging studies such as [[ultrasound]]. The presence of characteristic cysts in the kidneys, along with a history of similar symptoms in family members, can help in diagnosing the condition. | Diagnosis of juvenile nephronophthisis typically involves a combination of clinical evaluation, family history, genetic testing, and imaging studies such as [[ultrasound]]. The presence of characteristic cysts in the kidneys, along with a history of similar symptoms in family members, can help in diagnosing the condition. | ||
==Treatment== | ==Treatment== | ||
There is currently no cure for juvenile nephronophthisis, and treatment focuses on managing symptoms and slowing the progression of kidney damage. This may include medications to control blood pressure, treat anemia, and balance electrolytes. In advanced cases, dialysis or a kidney transplant may be necessary to replace kidney function. | There is currently no cure for juvenile nephronophthisis, and treatment focuses on managing symptoms and slowing the progression of kidney damage. This may include medications to control blood pressure, treat anemia, and balance electrolytes. In advanced cases, dialysis or a kidney transplant may be necessary to replace kidney function. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with juvenile nephronophthisis varies depending on the severity of the disease and the age at which symptoms begin. Early diagnosis and treatment can help manage symptoms and delay the progression to end-stage kidney disease. However, most individuals with juvenile nephronophthisis will eventually require dialysis or a kidney transplant. | The prognosis for individuals with juvenile nephronophthisis varies depending on the severity of the disease and the age at which symptoms begin. Early diagnosis and treatment can help manage symptoms and delay the progression to end-stage kidney disease. However, most individuals with juvenile nephronophthisis will eventually require dialysis or a kidney transplant. | ||
[[Category:Kidney diseases]] | [[Category:Kidney diseases]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{rarediseases}} | {{rarediseases}} | ||
Latest revision as of 21:15, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Juvenile nephronophthisis | |
|---|---|
| |
| Synonyms | NPHP |
| Pronounce | N/A |
| Specialty | Nephrology |
| Symptoms | Polyuria, polydipsia, anemia, growth retardation |
| Complications | End-stage renal disease |
| Onset | Childhood |
| Duration | Progressive |
| Types | Infantile, Juvenile, Adolescent |
| Causes | Genetic mutations in NPHP1, NPHP3, NPHP4, etc. |
| Risks | Family history of the condition |
| Diagnosis | Ultrasound, genetic testing |
| Differential diagnosis | Medullary cystic kidney disease, chronic kidney disease |
| Prevention | Genetic counseling |
| Treatment | Supportive care, kidney transplant |
| Medication | None specific |
| Prognosis | Variable, often leads to end-stage renal disease |
| Frequency | Rare |
| Deaths | N/A |
Juvenile nephronophthisis is a rare, inherited kidney disorder that primarily affects children and young adults. It is characterized by the inflammation and scarring of the nephrons, the functional units within the kidneys that are responsible for filtering waste from the blood and producing urine. This condition is a form of cystic kidney disease, where cysts develop in the kidneys as the disease progresses. Juvenile nephronophthisis is the most common genetic cause of chronic kidney disease (CKD) in children and adolescents.
Causes[edit]
Juvenile nephronophthisis is primarily caused by mutations in the NPHP1 gene, although mutations in other genes have also been associated with the disease. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the condition.
Symptoms[edit]
The symptoms of juvenile nephronophthisis often begin in early childhood, although they can vary widely in severity and onset. Common symptoms include excessive thirst and urination, growth retardation, and fatigue. As the disease progresses, it can lead to more serious complications such as anemia, bone abnormalities, and ultimately, end-stage kidney disease (ESKD), necessitating dialysis or a kidney transplant.
Diagnosis[edit]
Diagnosis of juvenile nephronophthisis typically involves a combination of clinical evaluation, family history, genetic testing, and imaging studies such as ultrasound. The presence of characteristic cysts in the kidneys, along with a history of similar symptoms in family members, can help in diagnosing the condition.
Treatment[edit]
There is currently no cure for juvenile nephronophthisis, and treatment focuses on managing symptoms and slowing the progression of kidney damage. This may include medications to control blood pressure, treat anemia, and balance electrolytes. In advanced cases, dialysis or a kidney transplant may be necessary to replace kidney function.
Prognosis[edit]
The prognosis for individuals with juvenile nephronophthisis varies depending on the severity of the disease and the age at which symptoms begin. Early diagnosis and treatment can help manage symptoms and delay the progression to end-stage kidney disease. However, most individuals with juvenile nephronophthisis will eventually require dialysis or a kidney transplant.
NIH genetic and rare disease info[edit]
Juvenile nephronophthisis is a rare disease.
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Rare diseases - Juvenile nephronophthisis
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