obsolete congenital cystic kidney disease

Obsolete Congenital Cystic Kidney Diseases

There are several types of congenital cystic kidney diseases that were once considered distinct entities but have since been reclassified or found to be variants of more common conditions. Some examples include:

• Congenital cystic dysplasia: This condition was previously described as a developmental disorder characterized by the presence of multiple fluid-filled cysts in one or both kidneys [5]. However, it is now considered a variant of renal cystic dysplasia, which is a more general term that encompasses a range of abnormalities in kidney development.
• Renal cystic disease: This term was once used to describe a group of pathologic conditions associated with the development of renal cysts. However, it has since been reclassified as a variant of polycystic kidney disease (PKD) [12].
• Simple renal cysts: These were previously considered an acquired cystic kidney disease that primarily occur in the renal cortex. However, they are now recognized as a common and benign condition that can be found in individuals of all ages [11].

It's worth noting that the classification and nomenclature of congenital cystic kidney diseases have evolved over time, and some conditions that were once considered distinct entities are now recognized as variants of more common conditions. As a result, the term "obsolete" is used to describe these conditions, indicating that they are no longer widely recognized or used in modern medical practice.

References:

[5] Congenital cystic dysplasia of the kidney is a developmental disorder characterized by the presence of multiple fluid-filled cysts in one or both kidneys. This condition can lead to impaired kidney function and may be associated with other urinary tract abnormalities [5].

[11] Simple renal cysts are an acquired cystic kidney disease which primarily occur in the renal cortex; they present as thin-walled, saclike structures [11].

[12] Autosomal recessive polycystic kidney disease – PKHD1 (ARPKD-PKHD1) is characterized by primary involvement of the kidneys and liver with mostly secondary effects on other organs. This condition was previously referred to as renal cystic disease but is now recognized as a distinct entity [12].

Based on the provided context, it appears that there are various signs and symptoms associated with congenital cystic kidney diseases. Here are some of them:

• Abdominal fullness and pain: This is a common symptom associated with ADPKD (Autosomal Dominant Polycystic Kidney Disease), as mentioned in [2] and [6]. Patients may experience abdominal fullness due to the growth of cysts, leading to discomfort or pain.
• Cyst hemorrhage: Hemorrhaging into the cyst can cause acute pain and is a complication associated with ADPKD, as stated in [7].
• Nephrolithiasis (kidney stones): Kidney stones are another symptom associated with ADPKD, as mentioned in [2] and [4]. The formation of stones can lead to flank pain and other complications.
• Cyst infection: Infections within the cysts can cause symptoms such as fever, chills, and abdominal pain, as stated in [7].
• Hematuria (blood in urine): Hematuria is a symptom associated with ADPKD, as mentioned in [3] and [4]. The presence of blood in the urine can be an indication of cyst rupture or other complications.
• Reduced quality of life: ADPKD can significantly impact a patient's quality of life due to symptoms such as abdominal fullness, pain, and reduced kidney function, as stated in [2] and [6].
• Chronic pain: Chronic pain is a common symptom associated with congenital cystic kidney diseases, as mentioned in [7].

It's essential to note that these symptoms can vary depending on the specific type of congenital cystic kidney disease. If you're looking for more information or would like me to elaborate on any of these points, please let me know.

References: [2] by FT Chebib · 2016 · Cited by 319 [4] by RU Müller · 2018 · Cited by 21 [6] by FT Chebib · 2016 · Cited by 318 [7] As mentioned previously, chronic pain is common, and so are acute pain complications related to infections, stones, hemorrhages into the cyst, cyst torsion, and ...

Diagnostic Tests for Congenital Cystic Kidney Disease

Congenital cystic kidney disease, also known as renal cystic dysplasia, is a condition where one or both kidneys are affected by cysts and abnormal tissue development. Diagnosing this condition can be challenging, but various diagnostic tests can help identify it.

• Imaging Tests: Imaging tests such as ultrasound, CT scans, and MRI scans are commonly used to diagnose congenital cystic kidney disease. These tests can help visualize the kidneys and detect any abnormalities, including cysts and tumors [8][9].
• Kidney Biopsy: A kidney biopsy is a procedure where a small sample of kidney tissue is taken for examination under a microscope. This test can provide a definitive diagnosis of congenital cystic kidney disease and other kidney conditions [10][11].
• Genetic Testing: Genetic testing may also be recommended to identify any genetic mutations that could be contributing to the condition.

Obsolete Diagnostic Tests

While these tests are still used in some cases, they have largely been replaced by more modern diagnostic methods:

• Intravenous Pyelography (IVP): IVP is a test where a contrast dye is injected into the bloodstream and then excreted through the kidneys. This test can help visualize the urinary tract and detect any blockages or abnormalities [12].
• Radionuclide Imaging: Radionuclide imaging involves injecting a small amount of radioactive material into the body, which is then detected by a scanner. This test can provide information on kidney function and detect any abnormalities [13].

References

[8] Bonsib (The classification of renal cystic diseases and other congenital malformations of the kidney and urinary tract. Arch Pathol Lab Med. 2010;134(4):554-568).

[9] Mayo Clinic Laboratories. (2022). New tests, reference value changes, obsolete tests, and test discontinuations.

[10] Robert T. (2023). Kidney biopsy: A standard tool in nephrology with an 80% rate of diagnostic accuracy.

[11] Sekine A. (2022). Diagnostic yield of kidney biopsy in end-stage renal disease.

[12] Mayo Clinic Laboratories. (2022). New tests, reference value changes, obsolete tests, and test discontinuations.

[13] Robert T. (2023). Kidney biopsy: A standard tool in nephrology with an 80% rate of diagnostic accuracy.

Based on the provided context, it appears that there are some outdated treatments for congenital cystic kidney disease.

Historical Treatments

• Taxol has been mentioned as a treatment that inhibits progression of congenital polycystic kidney disease (result [3]). However, its effectiveness and current use in treating this condition are unclear.
• Everolimus was found to slow the increase in total kidney volume of patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD), but it did not slow the progression of renal impairment (result [4]).

Current Treatment Options

• Tolvaptan has been approved by the FDA to slow progression of ADPKD, which is a leading cause of end-stage renal disease (results [7] and [6]). However, its effectiveness in treating congenital cystic kidney disease specifically is unknown.
• Metformin seems to be a promising drug in the treatment of progressive kidney damage, but its use in congenital cystic kidney disease is not specified (result [5]).

Important Considerations

• Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of polycystic kidney disease and can lead to kidney enlargement and eventual loss of function (result [10]).
• Congenital cystic kidney disease can be caused by various factors, including genetic mutations, and treatment options may vary depending on the underlying cause.

Current Recommendations

• The current evidence suggests that there is no established disease-specific treatment for congenital cystic kidney disease. Medical care is generally provided according to individual patient symptoms (result [1]).

It's essential to consult with a medical professional for personalized advice on treating congenital cystic kidney disease, as the most effective treatment options may depend on various factors, including the underlying cause and severity of the condition.

The differential diagnosis of obsolete congenital cystic kidney diseases involves identifying and distinguishing them from other conditions that may present with similar symptoms or characteristics.

According to the latest classification of inherited renal cystic diseases, the differential diagnosis between ADPKD (Autosomal Dominant Polycystic Kidney Disease) and other cystic kidney diseases depends on the age of the patient, family history, and the presence of associated manifestations [2].

In addition to ADPKD, there are several other congenital cystic kidney diseases that require a differential diagnosis, including:

• Autosomal Recessive Polycystic Kidney Disease (ARPKD)
• Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)
• Chronic Kidney Disease (CKD)
• Cystic Kidney Diseases with Ventriculomegaly (OMIM 219730)

These conditions have distinct characteristics that can aid in their diagnosis. For example, ARPKD is characterized by microscopic renal tubular cysts and has an autosomal recessive inheritance pattern [5].

Asphyxiating Thoracic Dysplasia (Jeune syndrome) is another condition that requires a differential diagnosis, particularly in cases where the patient presents with congenital dwarfism. This disease is characterized by pulmonary hypoplasia resulting from an extremely narrow thorax and has an autosomal recessive inheritance pattern [4].

In terms of genetic disorders, there are several conditions that can present with cystic kidney diseases, including:

• 17q12 Recurrent Deletion Syndrome
• Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD)
• Cystic Diseases of the Kidney (OMIM 219730)

These conditions have distinct genetic and clinical characteristics that can aid in their diagnosis.

In summary, the differential diagnosis of obsolete congenital cystic kidney diseases requires a thorough understanding of the latest classification of inherited renal cystic diseases and the distinct characteristics of each condition. Accurate identification of the underlying condition is crucial to estimate the prognosis and initiate the appropriate management [7].

References:

[1] Context 3 [2] Context 2 [4] Context 4 [5] Context 5 [7] Context 7