4 documents found, page 1 of 1
The Role of Genetic Testing in Diagnosing ADTKD-HNF1B in a Pregnant Woman
Fernandes,Vítor; Lisboa-Gonçalves,Pedro; Vasconcelos,Alice Porto; Faria,Bernardo; Tavares,IsabelAbstract Autosomal dominant tubulointerstitial kidney disease (ADTKD) accounts for approximately 2%‑5% of monogenic causes of chronic kidney disease (CKD) and remains frequently underrecognized due to its heterogeneous clinical presentation. We report the case of a 37‑year‑old pregnant woman diagnosed with CKD, initially attributed to chronic pyelonephritis. She presented with bilateral renal cysts, electrolyte...
Raising Awareness Towards Underdiagnosed Renal Hypouricemia: A Case Report
Lisboa-Gonçalves,Pedro; Ferreira,Filipa; Tavares,Isabel; Oliveira,João PauloABSTRACT Renal hypouricemia (RHUC) is an autosomal recessive disease caused by the dysfunction of uric acid (UA) transporters in the proximal tubule causing increased fractional excretion of uric acid (FEUA). It is associated with mutations of SLC22A12 that codifies for URAT1, involved in RHUC type 1, or SLC2A9 which codifies for GLUT9 and is involved in RHUC type 2. We present the case of a man diagnosed with ...
Successful Deceased Donor Kidney Transplantation in a Highly Sensitized Patient...
Alferes,Daniela; Tafulo,Sandra; Tavares,Isabel; Nunes,Ana Teresa; Rocha,Ana; Bustorff,Manuela; Sampaio,SusanaABSTRACT For patients with end stage renal disease, kidney transplant offers significant survival and quality-of-life advantages compared with dialysis. But for patients seeking transplant who are highly sensitized, waiting times have traditionally been long and options limited. We present the case of a 34-year-old hypersensitized female who underwent renal retransplantation. Histocompatibility tests revealed a...
Renal amyloidosis: classification of 102 consecutive cases
Tavares,Isabel; Vaz,Raquel; Moreira,Luciana; Pereira,Pedro Rodrigues; Sampaio,Susana; Vizcaino,J. Ramon; Oliveira,Joao Paulo; Costa,Paulo PinhoAmyloidoses are a group of heterogeneous diseases classified according to the nature of their causative amyloid proteins. Commonly, paraffin-embedded tissue is used for the typing of amyloid by immunohistochemistry. DNA analysis should always be considered if hereditary amyloidosis is suspected. Since the kidneys are one of the organs that are most commonly involved in amyloid deposition in systemic amyloidoses...