Sjögren's syndrome (SS) is a rare disease with the highest reported prevalence of 0.01-0.09%.
View Article and Find Full Text PDFBackground: The prevalence of malignancies is higher among kidney transplant recipients (KTR) than general population. Although the incidence of renal cell cancer (RCC) after KTR was reported as 0.6 % with a high mortality rate of 13.
View Article and Find Full Text PDFBalkan J Med Genet
November 2021
Multiple renal cysts in adult patients could have asymptomatic, benign and a nonprogressive course. However, these cysts could be renal features of a very rare hereditary, progressive syndrome defined as cranioectodermal dysplasia (CED or Sensenbrenner syndrome). Affected patients show dysmorphic features such as craniosynostosis, nail dystrophy, cutaneous dyshydrosis, dry or scaly palmar skin, trichodysplasia, deafness, pectus excavatum, telecanthus, hypertelorism, low set ears, everted lower lip, anteverted nares, short neck and height, joint laxity, inguinal hernia, widely spaced teeth, microdontia, hypodontia in addition to nephronophthisis.
View Article and Find Full Text PDFNefrologia (Engl Ed)
October 2022
Introduction: Hypouricemia may be caused by disorders leading to decreased UA production, oxidation of UA to allantoin by drugs or increased renal tubular loss of filtered UA, renal hypouricemia (RHUC). RHUC may be resulted from familial or acquired disorders. Familial RHUC cases are classified according to the gene affected as type 1 (SLC22A12 gene) and type 2 (SLC2A9).
View Article and Find Full Text PDFBackground: Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a systemic disease leading to renal complications of pauci-immune focal and segmental necrotizing crescentic glomerulonephritis (PI-NCGN).
Case Description: We present a 57-year-old female patient with rapidly progressive glomerulonephritis, multiple systemic infections [candidiasis and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)], severe weight loss, arthralgia, positive myeloperoxidase ANCA, acute deterioration of cardiac function and NCGN with heavy deposition of immunoglobulin (Ig) A and complement 3 (C3) in kidney biopsy. After two months of follow-up and appropriate treatments [methylprednisolone (60 mg/day), cyclophosphamide (15 mg/kg)], our patient recovered from multiple life-threatening infections, including candidiasis treated by fluconazole and SARS-CoV-2 treated by methylprednisolone and acute cardiac failure.
Nefrologia (Engl Ed)
August 2021
Introduction: Hypouricemia may be caused by disorders leading to decreased UA production, oxidation of UA to allantoin by drugs or increased renal tubular loss of filtered UA, renal hypouricemia (RHUC). RHUC may be resulted from familial or acquired disorders. Familial RHUC cases are classified according to the gene affected as type 1 (SLC22A12 gene) and type 2 (SLC2A9).
View Article and Find Full Text PDFBackground: Even though complement 1q nephropathy (C1qN) was first introduced in 1985, this entity is still unknown and recognized by clinicians due to its rare prevalence (0.2 - 2.5 %) and insufficient emphasis.
View Article and Find Full Text PDFBackground: The present study aimed to investigate and compare mental health, health-related quality of life, and sleep levels of patients with various stages of chronic kidney disease (CKD) and undergoing different renal replacement therapies and analyze the factors affecting these parameters.
Methods: Overall, 140 patients with a mean age of 43 ± 14 years were recruited into this study. Study groups [controls and patients with CKD undergoing predialysis, hemodialysis (HD), peritoneal dialysis, kidney transplantation (KT)] were evaluated using Short Form Health Survey-36 (SF-36), Kidney Disease Quality of Life-36 (KDQoL-36), Pittsburgh Sleep Quality Index (PSQI), and General Health Questionnaire-12 (GHQ-12).
Background: Hypokalemia and hypomagnesemia caused due to renal losses with chloride-resistant metabolic alkalosis in normotensive patients should remind clinicians of the rare inherited tubulopathy, Gitelman syndrome. Its diagnosis is further strengthened by the presence of consanguinity and the absence of kaliuretic medications. A definitive diagnosis should be based on genetic testing.
View Article and Find Full Text PDFBackground: Cutaneous diseases are observed with increasing duration and severity of renal disease in patients with chronic kidney disease (CKD). This study aimed to elucidate dermatological manifestations at different stages of CKD and determine their relationship with interleukin 31 (IL-31), a T-cell cytokine that induces severe pruritus, and uridine diphosphate (UDP)-glucose ceramide glucosyltransferase (UGCG), an enzyme that metabolizes ceramide, which plays an important role in moisturizing epidermis.
Methods: In this retrospective cohort study 145 patients with a mean age of 46 ± 17 years were categorized into hemodialysis (group 1), peritoneal dialysis (group 2), kidney transplant (group 3), CKD (group 4), and healthy control (group 5) groups.
In addition to being the main cause of glomerulonephritis in children, poststreptococcal glomerulonephritis (PSGN) has recently been shown in older patients, especially those with malignancy or diabetes mellitus. The pathogenesis of PSGN has been ascribed to activation of complement 3 (C3) of the alternative complement cascade which, along with immunoglobulin (Ig) G and IgM deposits, is observed in renal tissue. Our aim here is to discuss the probable causes of PSGN developing with isolated IgM deposition in a 52-year-old patient with essential thrombocytosis followed-up over the previous 3.
View Article and Find Full Text PDFBackground: The aim of this study was to evaluate risk factors for peritonitis associated with peritoneal dialysis in our centre.
Methods: Forty patients on chronic peritoneal dialysis between 2006-2010 were enrolled in this study. Nutritional, sociodemographical, psychological, dialysis related (peritoneal modality, characteristics and adequacy) possible risk factors associated with the development of peritonitis were recorded.