There are over a hundred rare diseases that can impact the functioning of the kidneys. Some of the less common renal diseases include Alport syndrome, Medullary cystic kidney disease (MCKD), Autosomal dominant polycystic kidney disease (ADPKD), and Nephronophthisis.
Alport syndrome is a genetic disorder characterized by kidney failure and hearing loss. It is caused by mutations in genes coding for type IV collagen, which is an important component of the glomerular basement membrane in the kidneys. Over time, the glomeruli are damaged, resulting in proteinuria and declining kidney function. Approximately 1 in 5000 individuals are affected by Alport syndrome worldwide.
Medullary cystic Rare Kidney Disease involves the development of cysts in the medulla of the kidneys, which are the inner regions. Two main types are MCKD type 1 and type 2. They are inherited in an autosomal recessive pattern. Cysts accumulate over time, leading to kidney enlargement and eventual failure. MCKD has a prevalence rate of about 1 in 50,000.
Autosomal dominant polycystic kidney disease is one of the most common life-threatening genetic disorders. It is caused by mutations in the PKD1 and PKD2 genes and is inherited in an autosomal dominant pattern. Multiple cysts form in both kidneys, enlarging them considerably. Symptoms include high blood pressure, kidney pain, urinary tract infections, blood in urine and late-stage renal failure. ADPKD has an incidence of about 1 in 1000-4000.
Nephronophthisis is a tubulointerstitial kidney disease leading to end-stage renal failure during childhood or teenage years in most cases. It is inherited as an autosomal recessive or autosomal dominant trait. Tiny cysts form along the renal tubules as the disease progresses. Overall prevalence is estimated to be between 1 in 50,000 to 1 in 100,000.
Diagnosis And Management Challenges
Given the rarity of these disorders, diagnosing them accurately can prove difficult. Initial tests ordered by doctors usually include urine examination, ultrasound of kidneys, serum creatinine levels and creatinine clearance tests. However, definitive diagnosis requires specialist kidney biopsy in many cases to check for characteristic pathology changes under microscopy. Genetic testing is also important to confirm the specific type and mutation involved.
Lack of awareness about Rare Kidney Disease poses challenges in management. Patients often face delays before reaching specialist nephrologists. Limited published research means treatment protocols are still evolving for some conditions. Managing complications like hypertension, pain, infections etc. requires multidisciplinary teams. Coordinating long-term care and follow-up can be an issue as patients transition between pediatric and adult medical services.
Access To Novel Therapies
As understanding of disease pathways improves, new treatments are being developed for Rare Kidney Disease. For instance, antiviral drugs that block JC polyomavirus replication show promise against Nephropathia epidemica (a zoonotic infection causing tubulointerstitial nephritis). CRISPR gene editing is being explored as a curative approach for hereditary conditions.
Drugs inhibiting ACE2/angiotensin pathways help slow ADPKD progression. Research is ongoing into stem cell therapy using patient-derived podocytes for Alport syndrome. Management of symptoms also incorporates dietary changes, lifestyle modifications and palliative care approaches. Government approvals have enabled access to orphan drugs for rare disorders in many countries.
The rare diseases impacting the kidneys remain an important public health problem due to their chronic nature and lack of standardized care protocols. Improving awareness, expediting diagnosis, streamlining multi-specialty management, facilitating clinical trials and making innovative therapies more affordable are some priorities. Coordinated global research programs are necessary to find new treatments and eventually cures for these challenging conditions afflicting patients worldwide.
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1. Source: Coherent Market Insights, Public sources, Desk research
2. We have leveraged AI tools to mine information and compile it
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