obsolete autosomal dominant polycystic kidney

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder that affects the kidneys, causing them to become enlarged and develop numerous cysts. These cysts are fluid-filled sacs that can grow in size over time, leading to kidney damage and potentially resulting in end-stage renal disease.

Causes and Symptoms

• ADPKD is inherited in an autosomal dominant

Based on the provided context, it appears that there is no such thing as "obsolete" autosomal dominant polycystic kidney disease (ADPKD). ADPKD is a genetic disorder that affects the kidneys and is still a current medical condition.

However, I can provide information on the signs and symptoms of ADPKD. According to various sources [4, 6, 9, 11, 12], the common signs and symptoms of ADPKD include:

• High blood pressure
• Belly, side or back pain (due to cysts in the kidneys)
• Blood in the urine
• Abdominal fullness and pain
• Cyst hemorrhage
• Nephrolithiasis (kidney stones)
• Cyst infection
• Hematuria (blood in the urine)
• Reduced quality of life

These symptoms can occur at any age, but they often start to appear between the ages of 30 and 50 [11, 12]. In some cases, people may experience signs of ADPKD shortly after birth or in childhood, especially if it's the autosomal recessive form (ARPKD) [13].

It's worth noting that these symptoms can be similar to those experienced by people with other kidney disorders. Therefore, a definitive diagnosis of ADPKD typically requires genetic testing and imaging studies, such as ultrasound or CT scans [9].

Based on the provided context, it appears that there are several diagnostic tests and methods that were once used to diagnose autosomal dominant polycystic kidney disease (ADPKD), but may be considered obsolete or less preferred today.

• Imaging techniques: While ultrasound is still widely used for diagnosis and follow-up of ADPKD (2), other imaging techniques such as CT scans and MRI may have been used in the past, but their use has decreased with the advancement of technology.
• Genetic testing: Genetic testing was mentioned as a method for diagnosing ADPKD, particularly mass sequencing of PKD1, PKD2, GANAB, and DNAJB11 (7). However, this may not be considered obsolete, but rather a preferred method for identifying high-risk patients with ADPKD.
• Mayo classification system: The Mayo classification system was mentioned as the preferred method for identifying high-risk patients with ADPKD (3), which suggests that this system is still used today.

It's worth noting that the context mentions several studies and research papers on developing new diagnostic tests, such as a rapid urine test to diagnose and monitor ADPKD (6). This suggests that researchers are actively working on improving diagnostic methods for ADPKD.

In summary, while there may be some obsolete diagnostic tests for ADPKD, it's essential to consult the most recent medical literature for accurate information. The Mayo classification system and genetic testing appear to be still used today, but further research is needed to determine their current relevance in diagnosis.

References: * [2] Ultrasound is widely available and inexpensive (2). * [3] The Mayo classification system is preferred for identifying high-risk patients with ADPKD (3). * [6] A rapid urine test is being developed to diagnose and monitor ADPKD (6).

Based on the provided context, it appears that there are limited treatment options available for autosomal dominant polycystic kidney disease (ADPKD) in its advanced stages.

Current Treatment Options:

• ACE inhibitors and ARBs are commonly used to manage blood pressure in patients with ADPKD, but they do not slow down the progression of the disease [1].
• Tolvaptan, a vasopressin receptor antagonist, is the only medication approved for the treatment of ADPKD in adults who are at risk of rapidly progressive kidney disease [3]. It has been shown to slow down kidney cyst growth and decline in estimated glomerular filtration rate (eGFR) by 1 mL/minute/1.73 m2 per year [15].

Off-Label Use:

• Some studies have investigated the use of cystic fibrosis transmembrane conductance regulator (CFTR) modulators and microRNA inhibitors for the treatment of ADPKD, but these are still in the experimental stages [7][12].
• Other medications, such as HMG-CoA reductase inhibitors, vitamins, urinary anti-infectives, salicylates, and platelet aggregation inhibitors, have been prescribed to patients with ADPKD, but their effectiveness is unclear [11].

Management Strategies:

• Lifestyle modifications, such as dietary changes and exercise, can help slow down disease progression in patients with ADPKD [14].
• Early detection and treatment of kidney and liver cyst infections are crucial to prevent complications [8].

It's essential to note that the FDA has requested additional data to further evaluate the efficacy and safety of Tolvaptan for the treatment of ADPKD, which may impact its availability as a treatment option in the future.

References:

[1] Context 1 [3] Context 3 [7] Context 7 [8] Context 8 [11] Context 11 [12] Context 12 [14] Context 14 [15] Context 15

The differential diagnosis for autosomal dominant polycystic kidney disease (ADPKD) involves considering other conditions that may present with similar symptoms or characteristics.

Conditions to consider in the differential diagnosis:

• Autosomal recessive polycystic kidney disease
• Renal cysts and diabetes syndrome (HNF1B)
• Tuberous sclerosis complex
• Autosomal dominant tubulointerstitial nephropathy

These conditions can be distinguished from ADPKD based on factors such as:

• Family history: A family history of other genetic disorders or kidney diseases may suggest an alternative diagnosis.
• Age of onset: Certain conditions, like autosomal recessive polycystic kidney disease, tend to present earlier in life than ADPKD.
• Associated symptoms: Conditions like tuberous sclerosis complex often involve additional systemic manifestations beyond renal cysts.

Key points to consider:

• The differential diagnosis for early-onset ADPKD includes conditions such as autosomal recessive polycystic kidney disease, renal cysts and diabetes syndrome (HNF1B), and tuberous sclerosis complex. [6]
• Conditions like autosomal dominant tubulointerstitial nephropathy can also be considered in the differential diagnosis of ADPKD. [5]
• The presence of associated symptoms or systemic manifestations beyond renal cysts may suggest an alternative diagnosis. [8]

References:

[1] - Problems to be considered in the differential diagnosis of autosomal dominant polycystic kidney disease include the following. [5] - Conditions in the differential diagnosis of ADPKD include: Autosomal dominant tubulointerstitial nephropathy. [6] - The differential diagnosis for early onset ADPKD is autosomal recessive polycystic kidney disease, renal cysts and diabetes syndrome (HNF1B), tuberous sclerosis complex. [8] - The differential diagnosis between ADPKD and other cystic kidney diseases depends on the age of the patient, family history and the presence of associated symptoms.