Caroli Disease Revisited: A Case of a Kidney Transplant Patient With Autosomal Polycystic Kidney Disease and Recurrent Episodes of Cholangitis.

Polycystic kidney disease (PKD) is a genetic disorder leading to end-stage renal disease more commonly in the fourth to sixth decades of life. Cyst formation in the kidneys and other organs such as the liver and pancreas is the main characteristic of this disease. A significant number of patients with PKD undergo kidney transplantation and receive significant immunosuppression, predisposing them to comorbidities such as infections and malignancies. The link between these cystic syndromes and Caroli disease (which is radiologically demonstrated as bile duct ectasia, segmental cystic dilation of intrahepatic bile ducts, with a normal common bile duct and absence of hepatic fibrosis or portal hypertension), is extremely important. Suspicion, screening, and timely diagnosis of the presence of Caroli disease in patients with PKD prior or post receiving a kidney transplant will reduce morbidity in these patients and possibly prolong both graft and patient survival. We describe a patient with autosomal dominant polycystic kidney disease who underwent recurrent admissions for presumed cholangitis and was eventually diagnosed with Caroli disease.

Impact of Ethylene Glycol Toxicity on Donor Organ Viability: A Case Report.

Using kidneys from deceased donors whose demise was secondary to ethylene glycol (EG) toxicity requires considerable thought and planning. The exact impact that kidneys from these donors could have is unclear. The shortage of viable organs and growing wait list mortality should lead us to consider these allografts as potential life-saving transplants. Because it is crucial for the transplant community to use every available allograft, we need to develop processes that optimize each possible scenario. This article is a discussion of the viability of kidneys from a donor with EG-induced brain death and a proposed algorithm for encouraging the use of renal allografts after EG toxicity.

Preserved endocrine function in a pancreas transplant recipient with pancreatic panniculitis and antibody-mediated rejection.

Pancreas transplantation is an effective treatment option for patients with complicated diabetes mellitus. Pancreas allograft recipients are followed with laboratory markers such as serum amylase, lipase and glucose levels. Hyperglycemia may indicate severe acute rejection and has recently been associated with antibody-mediated (humoral) rejection. In this report, we describe a unique case of a pancreas-after-kidney (PAK) transplant recipient with the rare presentation of pancreatic panniculitis, biopsy-proven severe acute cellular and antibody-mediated pancreas allograft rejection and surprisingly well-preserved endocrine function despite treatment with high dose steroids. We discuss the clinicopathologic features of antibody-mediated pancreas rejection, including the importance of correlating pancreas allograft biopsy, C4d staining and donor specific antibodies, to diagnose antibody-mediated rejection and initiate the correct treatment.

Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene.

The spectrum of distal renal tubular acidosis (dRTA) includes a genetically heterogeneous group of inherited conditions of both autosomal-dominant and recessive mode of inheritance. The basic defect is linked to the renal part of acid-base homeostasis, which is partly achieved by the regulated luminal secretion of H+ at the apical surface of the alpha-intercalated cells of renal collecting ducts. This is coupled to bicarbonate reabsorption with chloride counter transport across the basolateral membranes. Here, we describe the molecular findings of the first two Greek Cypriot families with recessive dRTA and the long-term clinical findings in four of five affected members. DNA linkage analysis with four polymorphic markers flanking the ATP6V1B1 gene on chromosome 2 gave evidence for positive linkage; direct DNA analysis by automated DNA sequencing revealed that patients in one family were homozygous for mutation 229+1G>T (IVS7+1G>T) and that patients in the second family were compound heterozygous for 229+1G>T and R157C. The mutations were found on four different haplotypes. Both the mutations were previously reported in patients of Turkish origin. Three known polymorphic variants were also identified. The five patients demonstrated the whole clinical spectrum of the disease including death in infancy, failure to thrive, rickets, nephrocalcinosis, nephrolithiasis, and episodes of hypokalemic paralysis. Some of the family members are now in their mid 30s and late 20s, and nephrolithiasis with recurrent renal colics is their main problem. Renal function has remained normal. In conclusion, early diagnosis in infancy and prompt treatment with alkali and potassium supplements is of great benefit to the patient with dRTA and ensures normal growth. The identification of responsible mutations facilitates antenatal or postnatal diagnosis in concerned families and improves the prognosis.