RESUMO
Urachus is a tubular connection between the umbilical cord and the bladder of developing foetus and tends to degenerate during perinatal period to form an impatent median umbilical ligament. Failure to degenerate results in patent canal between the bladder and the umbilicus called "patent urachus" which may lead to serious of symptoms such as umbilical discharge, dermatitis, umbilical infection, abdominal pain or recurrent urinary tract infections. The Tenckhoff catheter is a tube used to perform peritoneal dialysis that is inserted through abdominal wall into peritoneum either by open surgery, minilaparotomy, laparoscopy or needle-guidewire technique. A CASE REPORT: A 57-years old man was admitted to the hospital after implantation of Tenckhoff catheter by percutaneous technique in order to start peritoneal dialysis treatment. His medical history was: endstage chronic kidney disease (diabetic nephropathy), type 2 diabetes and hypertension. After the infusion of dialysate the patient experienced sudden urine pressure and passed significant amount of urine. The CT scan showed the tip of catheter being placed inside the urinary bladder. The catheter was introduced through the abdominal wall into the canal of previously undiagnosed patent urachus. The decision about re-surgery was made to stitch urachal remnants and place new the Tenckhoff catheter. Awaiting the surgery patient temporary started hemodialysis. In ongoing observation patient did not present any complications associated with peritoneal dialysis treatment.
Assuntos
Diabetes Mellitus Tipo 2 , Falência Renal Crônica , Laparoscopia , Diálise Peritoneal , Úraco , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Diálise Peritoneal/efeitos adversos , Gravidez , Úraco/cirurgiaRESUMO
Renal involvement is observed in 30% of sarcoidosis cases, but the exact occurrence is unknown, and the current numbers are estimated to be underestimated. The most common manifestation of renal sarcoidosis is interstitial nephritis, but other presentations are also possible, with specific histopathological and laboratory findings. Glomerulopathies, nephrocalcinosis and nephrolithiasis are among the most commonly seen types of renal involvement. CASE REPORTS: We would like to show a case series describing four patients with varying renal manifestations of sarcoidosis: membranous nephropathy, granulomatous interstitial nephritis, IgA nephropathy and chronic kidney disease. The diagnosis of sarcoidosis can precede, present simultaneously with or follow the onset of renal manifestations. Our patients also showcase varying clinical pictures of renal sarcoidosis with different changes in renal parameters. CONCLUSIONS: The involvement of kidneys in sarcoidosis is multifaceted and may pose a diagnostic difficulty, and a diagnostic kidney biopsy is often needed. Chronic sarcoidosis patients should undergo regular screening for renal involvement to introduce proper management quickly and effectively.
Assuntos
Nefrite Intersticial , Nefrolitíase , Sarcoidose , Granuloma/diagnóstico , Humanos , Rim/patologia , Nefrite Intersticial/diagnóstico , Nefrite Intersticial/epidemiologia , Nefrite Intersticial/etiologia , Sarcoidose/complicações , Sarcoidose/diagnóstico , Sarcoidose/patologiaRESUMO
BACKGROUND: Alagille syndrome is an autosomal dominant disorder usually caused by pathogenic variants of the JAG1 gene. In the past, cholestasis was a condition sine qua non for diagnosis of the syndrome. However, recent advancements in genetic testing have revealed that clinical presentations vary from lack of symptoms, to multiorgan involvement. Tetralogy of Fallot, the most frequent complex congenital heart defect in Alagille Syndrome, very rarely leads to renal failure requiring dialysis - there are only single reports of such cases in the literature, with none of them in Alagille Syndrome. CASE PRESENTATION: A 41-year-old woman suffering from cyanosis, dyspnea and plethora was admitted to the hospital. The patient suffered from chronic kidney disease and tetralogy of Fallot and had been treated palliatively with Blalock-Taussig shunts in the past; at admission, only minimal flow through the left shunt was preserved. These symptoms, together with impaired mental status and dysmorphic facial features, led to extensive clinical and genetic testing including whole exome sequencing. A previously unknown missense variant c.587G > A within the JAG1 gene was identified. As there were no signs of cholestasis, and subclinical liver involvement was only suggested by elevated alkaline phosphatase levels, the patient was diagnosed with incomplete Alagille Syndrome. End-stage renal disease required introduction of renal replacement therapy. Continuous ambulatory peritoneal dialysis was chosen and the patient's quality of life significantly increased. However, after refusal of further treatment, the patient died at the age of 45. CONCLUSIONS: Tetralogy of Fallot should always urge clinicians to evaluate for Alagille Syndrome and offer patients early nephrological care. Although tetralogy of Fallot rarely leads to end-stage renal disease requiring dialysis, if treated palliatively and combined with renal dysplasia (typical of Alagille Syndrome), it can result in severe renal failure as in the presented case. There is no standard treatment for such cases, but based on our experience, peritoneal dialysis is worth consideration. Finally, clinical criteria for the diagnosis of Alagille Syndrome require revision. Previously, diagnosis was based on cholestasis - however, cardiovascular anomalies are found to be more prevalent. Furthermore, the criteria do not include renal impairment, which is also common.