polycystic liver disease 3 with or without kidney cysts

Polycystic Liver Disease 3 (PCLD3) is an autosomal dominant disorder characterized by the development of multiple liver cysts that usually become apparent in adulthood [11][13]. Liver cysts range in size and number, and the clinical severity is variable. Most patients also have a few renal cysts, but they do not result in significant renal disease or renal failure (summary by Besse et al., 2017) [13].

This condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the disorder. The genetic mechanisms and/or signaling defects are the root cause of ductal structures to become separated from the biliary tree finally resulting in cyst formation [4][12].

It's worth noting that PCLD3 is one of the forms of polycystic liver disease, which also includes other types such as PLD1 (174050) and autosomal dominant polycystic kidney disease. The natural history of these disorders is alike, regardless of the genetic mutations [15].

Symptoms of Polycystic Liver Disease (PLD)

Polycystic liver disease can cause a range of symptoms, which may vary in severity and frequency. Here are some common signs and symptoms associated with PLD:

• Abdominal pain: Feeling of fullness or discomfort in the upper abdomen, which may worsen after eating [3].
• Shortness of breath (dyspnea): Difficulty breathing due to enlarged liver causing pressure on the lungs [1].
• Early satiety: Feeling full quickly after eating, leading to reduced appetite and weight loss [1].
• Gastrointestinal symptoms: Nausea, vomiting, and acid reflux may occur in some individuals [3].
• High blood pressure: Elevated blood pressure is a common symptom of PLD, particularly if kidney cysts are also present [4].
• Belly or back pain: Pain in the upper abdomen or lower back due to enlarged liver or cysts pressing on surrounding organs [4].
• Blood in urine: Hematuria may occur if kidney cysts rupture and bleed into the urinary tract [4].

Symptoms without Kidney Cysts

In some cases, individuals with PLD may not experience any symptoms at all, even when liver cysts are present. However, as the disease progresses and liver enlargement occurs, symptoms like:

• Abdominal distension: Enlarged abdomen due to fluid accumulation or liver growth [8].
• Postprandial fullness: Feeling of fullness after eating, which may lead to reduced appetite and weight loss [3].

Symptoms with Kidney Cysts

When kidney cysts are also present, symptoms like:

• Hematuria: Blood in the urine due to ruptured kidney cysts [9].
• Proteinuria: Presence of excess protein in the urine, indicating kidney damage [9].

It's essential to note that not everyone with PLD will experience these symptoms, and their severity can vary greatly from person to person. If you suspect you or someone else may have PLD, consult a healthcare professional for proper evaluation and diagnosis.

References:

[1] Mar 31, 2023 [2] Most of the time, people with polycystic liver disease have no symptoms. [3] Oct 11, 2023 [4] Aug 27, 2024 [5] Most people with PLD will never have any symptoms. [6] Aug 10, 2023 [7] Jan 28, 2022 [8] by JP Kothadia · 2023 · Cited by 8 [9] Oct 11, 2022

Polycystic liver disease (PLD) can be diagnosed using various diagnostic tests, which may also help identify the presence of kidney cysts in some cases.

• Imaging tests: These are commonly used to diagnose PLD and assess the severity of the condition. The following imaging tests can be used:
  • Ultrasound: This is a non-invasive test that uses sound waves to create images of the liver and kidneys [5].
  • Computed Tomography (CT) scans: CT scans use X-rays and computer technology to produce detailed images of the liver and kidneys [5].
  • Magnetic Resonance Imaging (MRI): MRI scans use magnetic fields and radio waves to produce detailed images of the liver and kidneys [5].
• Genetic testing: Genetic testing can be used to confirm the diagnosis of PLD, especially in cases where there is a family history of the condition. This test involves sequencing the genes responsible for PLD [7][9].

It's worth noting that the presence of kidney cysts (autosomal dominant polycystic kidney disease or ADPKD) can sometimes be associated with liver cysts in PLD. In such cases, imaging tests like ultrasound, CT scans, and MRI may also be used to diagnose ADPKD [8]. However, a definitive diagnosis of PLD requires a combination of clinical evaluation, family history, and imaging studies.

References: [3] - Polycystic liver disease (PLD) is a rare genetic disorder that causes normal liver tissue to be replaced by fluid-filled liver cysts. [5] - Liver cysts are usually diagnosed using ultrasound, computed tomography (CT) or magnetic resonance imaging (MRI) to check the size and position of your liver ... [7] - Jan 15, 2023 — Genetic testing by sequencing would be ideal to confirm the diagnosis.4 In ADPKD, most commonly hepatic cysts develop later than renal cysts. [8] - Differential diagnoses include multiple liver cysts, found in association with autosomal dominant polycystic kidney disease (ADPKD; see this term), but PCLD is ... [9] - by MM Boerrigter · 2021 · Cited by 24 — Genetic testing for cases with renal cysts (in the presence or absence of liver cysts) may also be considered in cases of equivocal or atypical renal imaging ...

Based on the available information, it appears that there are some potential drug treatments being researched for polycystic liver disease (PLD) and autosomal dominant polycystic kidney disease (ADPKD), which often occur together.

• Tolvaptan: A study in 2020 found that tolvaptan reduced liver as well as kidney volume in ADPKD, presumably by shrinking cysts [3]. However, it's essential to note that this treatment does not reduce the size of liver cysts, but rather helps slow down their growth.
• Lanreotide and Octreotide: Researchers are currently studying whether these drugs can decrease the size of liver cysts in PLD patients. These medications work by reducing fluid production in the liver [6].
• Everolimus: This medication has been shown to decrease the enlargement of renal cysts and slow down worsening renal function in animal models, but its effectiveness for liver cysts is not well established [8].

It's crucial to note that these treatments are still being researched, and more studies are needed to confirm their efficacy and safety. Currently, there are no approved medicines specifically for PLD.

Surgical treatment options, such as liver resection or liver transplantation, may be considered in severe cases of PLD, but they carry significant risks and should only be pursued under the guidance of a qualified healthcare professional [15].

In summary, while some potential drug treatments are being researched for PLD and ADPKD, more studies are needed to confirm their effectiveness. Surgical treatment options may also be available in severe cases.

References: [3] T Takenaka · 2020 · Cited by 10 — The present case indicated that tolvaptan reduced liver as well as kidney volume in ADPKD, presumably by shrinking cysts. [6] Researchers are currently studying whether the drugs lanreotide (Samutuline) and octreotide (Sandostatin), given intravenously or by injection, can decrease the size of liver cysts in PLD patients. [8] by B Aussilhou · 2018 · Cited by 32 — In rat and mouse models, everolimus has been shown to decrease the enlargement of renal cysts and thus to slow the worsening of renal function, through ...

Based on the search results, it appears that differential diagnoses for polycystic liver disease (PLD) with or without kidney cysts include:

• Multiple liver cysts associated with autosomal dominant polycystic kidney disease (ADPKD) [11]
• Other conditions that may present with multiple liver cysts, such as:
  • Liver cysts found in association with ADPKD [10]
  • Hepatic cysts not detected in patients at risk for PKD unless renal cysts were also present [12]

It's worth noting that PLD can occur without recognizable renal involvement on imaging studies, and almost 30%–40% of patients with adult polycystic kidney disease have hepatic cysts [14].

In terms of specific conditions to consider in the differential diagnosis of PLD, it may be helpful to rule out other causes of liver cysts, such as:

• Biliary dysplasia
• Caroli's disease
• Von Meyenburg complexes

A thorough evaluation by a healthcare professional, including imaging studies and genetic testing if necessary, is essential to determine the underlying cause of liver cysts.

References: [10] Jan 15, 2023 — The hereditary form of polycystic liver disease (PLD) is mostly associated with autosomal dominant polycystic kidney disease (ADPKD). [11] Differential diagnoses include multiple liver cysts, found in association with autosomal dominant polycystic kidney disease (ADPKD; see this term), but PCLD is ... [12] Liver cysts were found in 46 (29 per cent) of 158 patients over 10 years of age with documented autosomal dominant-type polycystic kidney disease (PKD) from 62 unrelated families. Hepatic cysts were not found in any patient at risk for PKD in whom renal cysts were not detected. [14] Almost 30%–40% of patients with adult polycystic kidney disease have hepatic cysts. Polycystic liver disease can occur without recognizable renal involvement on ...