Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents with [prenatal/neonatal] history of bilateral nephromegaly. Clinical course complicated by [respiratory distress/Potter sequence/oligohydramnios]. Known PKHD1 mutation status: [Positive/Pending]. Current status: [stable/critically ill], monitoring for renal insufficiency, systemic hypertension, and signs of portal hypertension/cholangitis.
Clinical Examination Findings
General: [Infant/Child] appears [well-developed/distressed]. Abdomen: Bilateral flank masses palpable, firm, non-tender. Respiratory: [Decreased breath sounds/tachypnea] consistent with pulmonary hypoplasia. Cardiovascular: Hypertension noted on serial BP monitoring. Skin: No stigmata of syndromic facies. Hepatic: Liver edge [palpable/non-palpable], no clinical evidence of variceal bleeding or ascites.
Treatment Protocol
Management plan: 1. Supportive care for renal failure (fluid/electrolyte management). 2. Aggressive blood pressure control (ACE inhibitors/CCBs). 3. Respiratory support as indicated (mechanical ventilation/surfactant). 4. Nutrition: High-caloric intake, potential G-tube placement. 5. Multidisciplinary follow-up: Nephrology, Hepatology, and Genetics. 6. Monitor for complications of congenital hepatic fibrosis (portal hypertension).