Management of ADPKD and TSC

Disease Characteristics and Pathophysiology

ADPKD is characterized by progressive development of fluid-filled cysts in the kidneys, while TSC presents with hamartomas in multiple organ systems including kidneys, brain, skin, and lungs 1, 2
ADPKD presents primarily with bilateral renal cysts that progressively enlarge and replace normal kidney tissue 1, 2

Abdominal pain occurs in 10-20% of children with ADPKD and requires a multidisciplinary approach 1, 2
Macroscopic hematuria occurs in 5-15% of children with ADPKD 1, 7

Blood pressure control is the cornerstone of ADPKD management, with a target BP of 110/75 mmHg for patients aged 18-49 years with CKD G1-G2 if tolerated 3, 4
ACE inhibitors or ARBs are first-line antihypertensive agents for ADPKD patients 4
Tolvaptan (vasopressin V2 receptor antagonist) may be used in adults with rapidly progressing ADPKD, but is not recommended for children 1, 5
mTOR inhibitors are the primary treatment for TSC manifestations, particularly for subependymal giant cell astrocytomas and large angiomyolipomas 1, 5

For ADPKD, non-pharmacologic interventions should be tried first, followed by pharmacologic treatment, with avoidance of chronic NSAID use due to potential renal adverse effects 1, 6
For refractory kidney pain in ADPKD, cyst aspiration or aspiration sclerotherapy may be considered when pain can be attributed to specific dominant cysts 3, 4
UTIs are more common in ADPKD (15-25% in children) but should be treated according to standard protocols 1, 7
Cyst infections in ADPKD require prolonged antibiotic therapy with lipid-soluble antibiotics for better penetration 8
FDG-PET/CT is superior to contrast CT or MRI for diagnosing and localizing infected cysts in ADPKD 1, 7

ADPKD patients require regular monitoring of blood pressure, renal function, and total kidney volume 3, 4
In children with very-early-onset ADPKD or TSC2/PKD1 contiguous gene syndrome, early referral to specialized centers and multidisciplinary care is recommended 7

Kidney transplantation, preferably preemptive and living-donor, is the preferred treatment for kidney failure in both ADPKD and TSC 8
Native nephrectomy should only be performed for specific indications such as recurrent infections, bleeding, or suspicion of malignancy 8