ABSTRACT
Introduction: Alport syndrome should be considered in the differential diagnosis of patients with persistent microhematuria. Electron microscopic examination of renal tissue remains the most widely available and applied means for diagnosing AS. The presence of diffuse thickening and multilamellation of the GBM predicts a progressive nephropathy, regardless of family history. Unfortunately, ultrastructural information alone does not establish the mode of transmission in a particular family. Method(s): 18 years-old male patient was followed in the clinic due to persistent microscopic haematuria and proteinuria. Family history is significant for one brother in his early 20s, who started to have the presentation early in life and his initial biopsy showed thin basement membrane disease. The brother subsequently progressed to renal failure and a repeat biopsy confirmed the presence of Alport syndrome. Another brother had end-stage renal disease and underwent renal transplantation. The patient status was revised, and genetic studies confirmed the presence of an autosomal recessive type of Alport syndrome involving collagen for A3 chain COL4A3. His kidney function remained stable initially with an estimated GFR of approximately 90 mL/min/1.73 m2. The most recent eGFR is around 70 ml/min/1.73 m2. His proteinuria disappeared once Losartan 25 mg was added to Ramipril 5 mg. His blood pressure has been on target. Creatinine increased to 147 micromol/L and he was diagnosed as having acute kidney injury on chronic renal disease which was obvious post covid infection, then back to baseline. Current proteinuria 3 g/g Cr on Angiotensin receptor blockers. BP 110/70, all other systemic examination is unremarkable. No hearing or visual abnormalities. Result(s): The initial renal manifestations in early childhood include asymptomatic-persistent microscopic hematuria and rarely gross hematuria. At the onset, the serum creatinine and blood pressure are normal. Over time, proteinuria, hypertension, and progressive renal insufficiency develop. ESRD usually occurs between the ages of 16 and 35 years and rarely can occur between 45 and 60 years. Renal biopsy findings of thinning and multilaminar splitting of the glomerular capillary basement membrane seen on electron microscopic examination are pathognomonic. In 2013, an expert panel issued guidelines recommending genetic testing as the gold standard for the diagnosis of Alport syndrome. Currently, a skin biopsy using commercially available monoclonal antibody against the type IV collagen alpha-5 chain (COL4A5). If the protein is clearly absent in a suspected male, a diagnosis of Alport syndrome can be made without further testing. Conclusion(s): Males with X-linked AS due to a deletion mutation of the alpha 5 chain of type IV collagen usually progress to ESRD by the second or third decade of life. Likewise, patients with autosomal recessive AS due to mutations affecting alpha 3 or 4 chains of type IV collagen tend to progress to ESRD by age 30. Autosomal-dominant AS with heterozygous mutations of COL4A3 or COL4A4 usually has a slower progression of CKD. Treatment is blood pressure control with RAAS inhibitors where clinically appropriate. Cyclosporine may be helpful in some patients with stage I and II CKD with significant proteinuria. Caution using calcineurin inhibitors is indicated in all patients with more advanced CKD stages due to potential nephrotoxicity. No conflict of interestCopyright © 2023
ABSTRACT
Hydrothorax occurs in approximately 2% of patients on peritoneal dialysis caused by migration of fluid from the peritoneal cavity into the pleural space via pleuroperitoneal fistulas. These diaphragmatic defects are usually congenital and right-sided, explaining the predominance of right-sided effusion.. Thoracocentesis with biochemical analysis of pleural fluid reveals a transudate with a very high glucose concentration. In uncertain cases, or when there is a clinical need to demonstrate the anatomy of the communication, an imaging approach such as peritoneal scintigraphy is required. 66-year-old Hispanic female with past medical history significant for end stage kidney disease on peritoneal dialysis for past 5 months, hypertension ,cerebrovascular accident with no residual deficit, and recent exposure to COVID19 presented with fever, shortness of breath, left eye gaze abnormality and + COVID PCR. She had been having issues with meeting ultrafiltration goals outpatient. On examination she has decreased breath sounds at right lung base, Abdomen non-tender with PD catheter in place with clean dressing, no pedal edema. Laboratory findings were consistent with a transudative effusion;no organisms were cultured and no malignant cells were visualized. CT failed to identify dispersal of contrast material into the right hemithorax. A nuclear isotope scan was subsequently done. Following administration of technetium 99m via the PD catheter, a high volume of radioactive dialysate was detected entering the right hemithorax. No tracer activity was seen in the left hemithorax. PD was stopped and switched to intermittent hemodialysis.Unfortunately she succumbed to covid 19 pneumonia and died few days later. 50% of the cases, a conservative approach allows reinstitution of CAPD Conservative approach with temporary cessation of peritoneal dialysis remains the first-line treatment. 1-4 months has been shown to be adequate cessation time and restarting with low volume PD. If conservative approach fails, Invasive approach with video-assisted thoracoscopic pleurodesis or diaphragmatic repair or both allows most of them to continue with CAPD