Nephrotic syndrome

Disease Description (Causes and Symptoms)

• Definition and pathophysiology: Cushing syndrome is a syndrome caused by excessive exposure of the body to glucocorticoids (primarily cortisol). The causes are broadly divided into exogenous causes (long-term, high-dose steroid use) and endogenous causes (excess secretion from the adrenal glands, pituitary gland, or other organs). Endogenous cases are classified into ACTH-dependent cases caused by excess ACTH (adrenocorticotropic hormone) secretion (pituitary adenoma or ectopic ACTH-secreting tumor) and ACTH-independent cases caused by a tumor originating in the adrenal gland itself.
• Main symptoms: Round face (moon face), fat accumulation around the neck and shoulders (buffalo hump), central obesity, abdominal fat and purple striae, thin skin and easy bruising, delayed wound healing, muscle weakness (especially in the quadriceps), increased risk of osteoporosis and fractures, hypertension, hyperglycemia/diabetes, acne, hirsutism, menstrual irregularities, decreased sexual function, mood changes (depression and anxiety), and increased susceptibility to infections.
• Complications and pathophysiology: Over the long term, increased risks of cardiovascular disease, diabetes, hyperlipidemia, osteoporosis, and thrombosis may occur, along with an inadequate stress response during surgery or infection (risk of adrenal insufficiency).

Treatment Methods and Precautions

• Basic principle: Correcting the cause (removing the tumor or stopping/reducing exogenous steroids) is the top priority.
• Treatment of exogenous causes (excessive steroid use):
  • When possible, gradually reduce the dose and discontinue under a physician’s supervision. Sudden discontinuation may cause adrenal cortical insufficiency (adrenal failure).
• Treatment of endogenous causes:
  • Pituitary gland (Cushing disease, ACTH-secreting adenoma): Transsphenoidal pituitary tumor resection (surgical removal) is the first-line treatment. Radiation therapy or drug treatment (such as pasireotide and cabergoline) may be considered in cases of recurrence or when surgery is not possible.
  • Adrenal tumor: Partial or total adrenalectomy (endoscopic or open surgery) is performed.
  • Ectopic ACTH-secreting tumor (e.g., small cell lung cancer): Treatment of the primary tumor (surgery/chemotherapy/radiation therapy) and, in some cases, drug treatment.
• Drug treatment (preoperative preparation, when surgery is not possible, or as adjunctive therapy):
  • Cortisol synthesis inhibitors: ketoconazole, metyrapone, mitotane, osilodrostat, etc. Each drug has a different efficacy and side-effect profile.
  • Pituitary-targeted treatment: pasireotide, cabergoline.
  • Standard treatment for complications (hypertension, diabetes, osteoporosis, etc.) should be provided concurrently.
• Lifestyle and self-management:
  • Regularly measure blood pressure, blood glucose, weight, and symptoms of fractures (such as back pain and pain in the limbs). Seek medical attention promptly if signs of infection occur.
  • Osteoporosis prevention: Calcium and vitamin D supplementation, weight-bearing exercise, and osteoporosis medication (such as bisphosphonates) when necessary.
  • Before and after surgery and during stressful situations, stress-dose treatment considering adrenal insufficiency (as directed by a physician) may be necessary.
• Precautions:
  • Do not stop steroids on your own (risk of adrenal insufficiency).
  • During drug treatment, monitoring of liver function, electrolytes (especially when using metyrapone), electrocardiograms, and other parameters is necessary.
  • A low-cortisol state may occur after surgery (until adrenal function recovers), requiring temporary glucocorticoid supplementation.

Outpatient Visit Checkpoints (Including Preparation Items and Example Questions)

• Preparation items (recommended to bring to the visit):
  • A list of all medications and supplements currently being taken (including doses and duration of use)—especially steroid-related medications.
  • Previous test results (blood tests, 24-hour urinary cortisol test, late-night salivary cortisol, low-dose dexamethasone suppression test results, etc.) and imaging materials (abdominal CT and pituitary MRI) (if possible, on a CD/USB drive or as printed copies).
  • A record of symptom onset (when symptoms began, changes in symptoms, menstrual changes, etc.) and home blood pressure and blood glucose records (if available).
  • History of previous surgery and anesthesia, history of fractures, and history of infections.
• Information that is helpful to tell the doctor in advance during the outpatient visit:
  • Recent infections, vaccination history, whether you are pregnant or breastfeeding, and occupational stress or shift-work status.
• Example questions to prepare to ask the doctor during the outpatient visit (simple format):
  • "I will bring my recent test results, such as the 24-hour urinary cortisol test. How should these results be interpreted?"
  • "When and how can I reduce the steroid I am currently taking?"
  • "What will the recovery period and follow-up testing be like after surgery (or drug treatment)?"

General Example Questions to Ask the Doctor

• What are the expected effects and possible side effects of this medication (or surgery)?
• What do you think is causing my Cushing syndrome (adrenal gland/pituitary gland/exogenous cause)? What additional tests are needed to confirm the diagnosis?
• If I undergo surgery, what will the recovery period and schedule for rehabilitation and follow-up testing be?
• What specific lifestyle advice can help reduce the risk of complications, such as cardiovascular disease, osteoporosis, and diabetes?
• Which tests should be monitored during drug treatment (such as liver function, electrolytes, and cortisol levels), and how often should they be performed?

Examples of Condition-Specific Questions

• (For patients suspected of having an ACTH-dependent condition) "My ACTH level was high on my test. If a tumor is not clearly visible on pituitary MRI, what is the next step, such as circular detailed testing or selective venous blood sampling?"
• (For patients taking exogenous steroids) "What schedule and additional tests (such as evening cortisol and ACTH tests) should be used to safely taper the steroid I am currently taking (dose and duration)?"

Conclusion: After classifying the cause through appropriate diagnostic tests (blood, urine, and salivary tests and imaging), definitive treatment according to the cause (tumor removal) or drug and conservative treatment is provided. Management of complications and regular monitoring are important.