Polycystic kidney disease (PKD) is a genetic disorder in which cysts form primarily in the kidneys, causing them to enlarge and lose function over time. Cysts are non-cancerous, rounded sacs containing fluid. Cysts vary in size and can grow very large. Multiple cysts or large cysts can damage the kidneys. Polycystic kidney disease can also cause cysts to develop in the liver and other parts of the body. This disease can lead to serious complications, including high blood pressure and kidney failure.

Polycystic kidney disease is a congenital condition that can cause multiple fluid-filled cysts to develop in the kidneys. This condition can cause a variety of symptoms, including high blood pressure, back or side pain, hematuria, a feeling of fullness in the abdomen, an enlarged abdomen due to enlarged kidneys, headaches, kidney stones, kidney failure, and urinary tract infections. If you have any of these symptoms, it is important to see a doctor because untreated polycystic kidney disease can lead to serious complications.

Abnormal genes can cause polycystic kidney disease, which means that in most cases, the disease runs in families. Sometimes, mutations occur spontaneously, so that neither parent has a copy of the mutated gene.

The two main types of polycystic kidney disease are caused by different genetic defects：

1. Autosomal dominant polycystic kidney disease (ADPKD). the signs and symptoms of ADPKD usually occur between the ages of 30 - 40. In the past, this type was known as adult polycystic kidney disease, but children can also develop this disease. It can be passed on to a child if one parent has the disease. If one parent has ADPKD, each child has a 50% chance of developing the disease. This type accounts for the majority of cases of polycystic kidney disease.

2. Autosomal recessive polycystic kidney disease (ARPKD). This type is far less common than ADPKD. Signs and symptoms often appear shortly after birth. Sometimes, symptoms do not appear until childhood or adolescence. Both parents must have the abnormal gene in order to inherit the disease. If both parents carry the gene for the disease, each child has a 25% chance of developing the disease.

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Renal cysts are common entities that range from clinically insignificant to the development of renal failure. They may be isolated incidental findings, have a genetic component, or are part of a disease syndrome with extrarenal manifestations, such as cerebral aneurysms, valvular heart disease, colonic diverticula, and extrarenal cysts. Autosomal dominant polycystic kidney disease (ADPKD) is the most common cystic kidney disease in adults, which often manifests as numerous cysts and symmetrical involvement of both kidneys. ADPKD is classified as filariasis and 50% of cases will progress to renal insufficiency and end-stage renal failure. In a few cases, ADPKD can be unilateral or is classified as a completely separate entity called atypical polycystic kidney disease or unilateral renal cystectomy. Atypical polycystic kidney disease cannot be distinguished from typical bilateral polycystic kidney disease (PKD) by imaging or histology. It is considered benign, is not known to have extrarenal manifestations, does not progress to renal failure, and has no known genetic predisposition.

Atypical polycystic kidney disease (APKD) is a rare, benign disease that is indistinguishable from autosomal dominant polycystic kidney disease (ADPKD) on imaging and histology but is currently considered a completely separate disease. It can be differentiated from ADPKD in several ways. APKD is benign, non-progressive, without extrarenal manifestations, and is considered a non-genetic disease, whereas ADPKD is a symmetric, bilateral, monogenic disease. Unilateral ADPKD has been reported in the literature but is extremely rare. Unlike ADPKD and some other polycystic kidney diseases, extrarenal cysts are not seen in APKD, which has been described as multiple cysts involving the entire kidney or specific regions of the kidney with normal parenchyma in between.

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The pathogenesis is unclear, but there are hypotheses that it may arise from somatic mutations involving the renal parenchyma. ADPKD is currently considered to be a ciliopathy. In these diseases, mutations or deletions in genes that alter the structure and/or function of the primary cilia (immobile) of renal (and in some cases bile duct), tubular cells result in a cystic expansion of these structures. Renal cysts associated with ADPKD present as both cortical and medullary cysts in the location are generally simple and typically increase in size and number over time.

Specifically, in ADPKD, mutations in two genes, PKD1 and PKD2 result in the deletion of the membrane proteins polycystin-1 and polycystin-2, respectively. These proteins are normally responsible for fluid-regulating activities within the primary cilia of the kidney, and their absence is a major cause of cyst formation, in addition to other local or somatic factors. PKD1 and PKD2 mutations cause up to 85% and 15% of ADPKD, respectively, and approximately 5%-15% of cases are caused by disseminated de novo mutations with no identifiable family history. It is speculated that these disseminated cases of PKD may lead to "atypical" cases, such as the APKD cases presented here. Some of these cases are due to mutations in the protein biosynthesis pathway in the endoplasmic reticulum.

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Other cases of PKD, in patients without detectable mutations, are felt to be due to somatic chimerism. Chimerism is the appearance of 2 genetically distinct cell populations within an individual due to somatic mutations during embryogenesis. These mutations may involve germ cell lines and/or somatic cells. Somatic chimerism is thought to be responsible for atypical renal imaging patterns in cases of PKD, including asymmetric, unilateral, and unbalanced patterns. patients with APKD may present with symptoms such as hematuria or back pain, but patients are usually asymptomatic and cysts are found incidentally. usually, cysts tend to involve the renal pole locally, while the involvement of the entire kidney is rare.

APKD mainly involves only 1 kidney, but some cases have been reported with some cysts in the contralateral kidney, as in our case. A few atypical cases may develop a bilateral pattern. In this paper, we report a rare case of APKD. Although the course of the disease is benign from the current literature, it is still an important diagnosis for clinicians to recognize. As mentioned above, regular monitoring may be beneficial for patients as cases of atypical PKD progressing to bilateral PKD have been reported.

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If you have polycystic kidney disease and are thinking about having children, a genetic counselor can help you assess the risk of passing the disease on to your offspring. Keeping your kidneys as healthy as possible may help prevent some of the complications of this disease. One of the most important ways to protect your kidneys is to control your blood pressure.

Overall, the key to keeping blood pressure stable is to take your medications regularly as directed by your doctor and to maintain a healthy diet that includes low salt and a diet rich in fruits, vegetables, and whole grains. In addition, maintaining a proper weight, quitting smoking, exercising regularly, and limiting alcohol consumption are also important for controlling blood pressure, and at least 30 minutes of moderate-intensity physical activity per week is recommended. If you have high blood pressure, it is recommended that you follow the above recommendations and have your blood pressure measured frequently to ensure that you maintain a healthy lifestyle.

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