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What is the history of Medullary Sponge Kidney?

When was Medullary Sponge Kidney discovered? What is the story of this discovery? Was it coincidence or not?

History of Medullary Sponge Kidney

Medullary Sponge Kidney (MSK) is a rare congenital disorder that affects the kidneys. It was first described in medical literature in the early 20th century, but its exact history and origins remain unclear. MSK is characterized by the presence of cystic dilatation in the collecting ducts of the renal medulla, leading to the formation of sponge-like structures.



Early Observations:



The earliest observations of MSK can be traced back to the late 19th century when physicians noticed certain kidney abnormalities in autopsies. However, it wasn't until 1939 that Dr. Friedrich von Recklinghausen, a German pathologist, provided a detailed description of the condition. He identified the sponge-like appearance of the renal medulla and named the disorder "medullary sponge kidney."



Advancements in Diagnosis:



Over the years, advancements in medical imaging techniques have greatly improved the diagnosis of MSK. In the 1960s, the introduction of intravenous pyelography (IVP) allowed for better visualization of the renal collecting system. This led to an increased recognition of MSK cases and a deeper understanding of the disorder.



Genetic Discoveries:



In recent decades, significant progress has been made in understanding the genetic basis of MSK. Studies have identified several gene mutations associated with the development of MSK, including mutations in the HNF1B and UMOD genes. These discoveries have shed light on the underlying mechanisms of the disorder and provided valuable insights into its inheritance patterns.



Association with Other Conditions:



MSK has been found to be associated with various other medical conditions. One notable association is with nephrolithiasis, or kidney stones. Individuals with MSK have a higher risk of developing kidney stones due to the altered structure and function of the renal tubules. Additionally, MSK has been linked to urinary tract infections, renal cysts, and even renal cell carcinoma in some cases.



Treatment and Management:



There is currently no cure for MSK, and treatment primarily focuses on managing the associated symptoms and complications. This may involve measures to prevent kidney stone formation, such as increased fluid intake and dietary modifications. In severe cases, surgical intervention may be necessary to remove large stones or address other complications.



Ongoing Research:



Despite the progress made in understanding MSK, many aspects of the disorder still require further research. Scientists continue to investigate the precise genetic and molecular mechanisms underlying MSK development. Additionally, ongoing studies aim to identify potential biomarkers for early detection and explore novel therapeutic approaches.



Conclusion:



Medullary Sponge Kidney has a complex and fascinating history. From its initial observations in the late 19th century to the recent genetic discoveries, our understanding of this rare kidney disorder has significantly evolved. Ongoing research holds promise for improved diagnosis, treatment, and management of MSK, ultimately enhancing the quality of life for individuals affected by this condition.


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6 answers
Don't know

Posted May 21, 2017 by Brooke 2100
It is currently unknown who discovered Medullary Sponge Kidney.

Posted May 24, 2017 by Angel 2290
Please hit the books, or google. It is all there!

Posted Jun 17, 2017 by SaraKay423 2170
Medullary sponge kidney, also known as Cacchi-Ricci disease, is a birth defect where changes occur in the tubules, or tiny tubes, inside a fetus’ kidneys.

In a normal kidney, urine flows through these tubules as the kidney is being formed during a fetus’ growth. In medullary sponge kidney, tiny, fluid-filled sacs called cysts form in the tubules within the medulla—the inner part of the kidney—creating a spongelike appearance. The cysts keep urine from flowing freely through the tubules. As it collects in the cysts all calcium is combined and turned in to a kidney stone and as it grows it will at some point dislodge from that spot and will make its way down the kidney and to the mouth of the ureter to then be passed with your bathroom brea or may need surgery if it’s 5mm or larger as most people with msk are not able to pass any stone larger then 5mm depending on your body

Symptoms of medullary sponge kidney do not usually appear until the teenage years or the 20s. Medullary sponge kidney can affect one or both kidneys.

Posted May 27, 2018 by Cecilia 4100
Medullary Sponge Kidney was first recognized by G. Lenarduzzi in 1939, its thorough description was the result of the ante litteram multidisciplinary cooperation between a radiologist (Lenarduzzi) a urologist (Cacchi) and a pathologist (Ricci), all at the Padua University Hospital.

Posted Jul 31, 2018 by Shannon Bauer 4190

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