Medullary Sponge Kidney Disease

The medullary sponge kidney disease is a congenital affection, distinguished by a condition of diffuse ectasia or dilatation of the collecting tubules of one or both kidneys. In other words, the inner kidney tubules have irregular shapes and walls, rather than regular ones.

It’s a rare disorder characterized by the cystic malformations within the tubular structures inside the kidneys, which collect urine. Many people think that this is the same as renal stone disease. However, this is not true: renal stone disease is just a consequence of medullary sponge kidney disease. It is a genetically transmitted disease that is not curable. However, there are many treatments to improve the quality of life of the people who suffer from this kidney disease.

Medullary sponge kidney disease can also be known as “Cacchi-Ricci Disease”, “tubular Ectasia” and “precalyceal Canalicular Ectasia”. It can affect one or both kidneys.

Causes Of Medullary Sponge Kidney Disease

Pathogenesis of medullary sponge kidney disease is unknown, but most experts agree that it is a congenital anomaly with delayed expression. Furthermore, it is believed to be associated with other hereditary diseases, like hyperparathyroidism, medullary thyroid cancer and other conditions derived from a RET gene mutation.

Familial forms of the medullary sponge kidney disease have also been described, and it is suspected to be transmitted in a dominant mode. The future discovery of the gene or group of genes responsible for this disease will for sure help experts understand it and develop more effective treatments.

Symptoms Of Medullary Sponge Kidney Disease

The main clinical manifestation of medullary sponge kidney disease is the presence of renal stones (nephrolithiasis) caused by an excess of calcium. Other symptoms may include hematuria (presence of blood in the urine) as well as urinary infection.

Treatment Of Medullary Sponge Kidney Disease

A lot of people have never had any problems derived from medullary sponge kidney disease.  For others, however stones and infections must be fought against by periodic treatment. Infections can be treated with antibiotics. Stones, however, may need surgery, which usually consists in reaching up with instruments through the lower urinary tract to capture the stones. There is also a treatment technique called Shock Wave Lithotripsy, in which shock waves are delivered into the affected area, converting stones into sand that can be eliminated naturally.

Living With Medullary Sponge Kidney Disease

It is possible (and in some places common) to live with medullary sponge kidney disease and never develop renal stone disease. The best way to go is to keep a high consumption of liquid to avoid calcium accumulation.

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