- Variable phenotypic presentations of renal involvement in Fabry disease: a case series. [Journal Article]
- FF1000Res 2018; 7:356
- Fabry disease is an X-linked genetic deficiency in the alpha-galactosidase enzyme resulting in intracellular accumulation of glycosphingolipids and multisystem organ dysfunction. Typically 50% of mal...
Fabry disease is an X-linked genetic deficiency in the alpha-galactosidase enzyme resulting in intracellular accumulation of glycosphingolipids and multisystem organ dysfunction. Typically 50% of males and 20% of affected females have renal involvement, ranging from proteinuria or reduced renal function, renal parapelvic cysts and progressive renal disease ultimately requiring transplantation or dialysis. The phenotypic presentation of Fabry disease is incredibly varied and will even vary between family members with the same confirmed genetic mutation. In a cohort of patients affected by Fabry disease in the North East of England we examine the different phenotypic presentations of eight index cases (6 male, 2 female) with predominantly renal disease and the renal manifestations within their family members. The mean age of presentation was 40 years of age (range 23-59 years). Various multisystem manifestations were observed including cardiac, neurological, cerebrovascular and skin involvement. Two of the male index patients reached end stage renal disease (ESRD) requiring renal replacement therapy. Two female index patients had phenotypes limited to hypertension and proteinuria at presentation and the remaining patients had either stable or progressive chronic kidney disease at the time of diagnosis. We demonstrate the need for a high index of suspicion in order to consider Fabry disease as a diagnosis and the importance of cascade genetic screening to identify affected family members so that treatment can be initiated in a timely fashion.
- Ultrasound, Computed Tomography, and Magnetic Resonance Imaging in a Patient With Medullary Cystic Kidney Disease. [Journal Article]
- UQUltrasound Q 2018 May 15
- Among the renal cystic diseases that result in end-stage renal disease, an important hereditary cause is medullary cystic kidney disease, which affects adults in an autosomal dominant pattern. It is ...
Among the renal cystic diseases that result in end-stage renal disease, an important hereditary cause is medullary cystic kidney disease, which affects adults in an autosomal dominant pattern. It is characterized by progressive renal failure, tubulointerstitial fibrosis, and formation of small cysts in the renal medulla and corticomedullary junction. While the appearance of medullary/corticomedullary cysts may not be pathognomonic for medullary cystic kidney disease, encountering a patient with renal failure and medullary/corticomedullary cysts should prompt further investigation, given the implication of having the disease. Genetic testing can be used to identify potential renal donors as well as identify affected individuals in order to control risk factors for chronic renal disease that may mitigate the progression of the disease process. The treatment of choice is renal transplantation.
- BHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes. [Journal Article]
- HMHum Mol Genet 2018 May 14
- Birt-Hogg-Dubé (BHD) syndrome is a hereditary kidney cancer syndrome, which predisposes patients to develop kidney cancer, cutaneous fibrofolliculomas and pulmonary cysts. The responsible gene FLCN i...
Birt-Hogg-Dubé (BHD) syndrome is a hereditary kidney cancer syndrome, which predisposes patients to develop kidney cancer, cutaneous fibrofolliculomas and pulmonary cysts. The responsible gene FLCN is a tumor suppressor for kidney cancer which plays an important role in energy homeostasis through the regulation of mitochondrial oxidative metabolism. However, the process by which FLCN-deficiency leads to renal tumorigenesis is unclear. In order to clarify molecular pathogenesis of BHD-associated kidney cancer, we conducted whole-exome sequencing analysis using next-generation sequencing technology as well as metabolite analysis using LC/MS and GC/MS. Whole-exome sequencing analysis of BHD-associated kidney cancer revealed that copy number variations (CNV) of BHD-associated kidney cancer are considerably different from those already reported in sporadic cases. In somatic variant analysis, very few variants were commonly observed in BHD-associated kidney cancer; however, variants in chromatin remodeling genes were frequently observed in BHD-associated kidney cancer (17/29 tumors, 59%). Metabolite analysis of BHD-associated kidney cancer revealed metabolic reprogramming towards upregulated redox regulation which may neutralize reactive oxygen species potentially produced from mitochondria with increased respiratory capacity under FLCN-deficiency. BHD-associated kidney cancer displays unique molecular characteristics which are completely different from sporadic kidney cancer, providing mechanistic insight into tumorigenesis under FLCN-deficiency as well as a foundation for development of novel therapeutics for kidney cancer.
- A decreased soluble Klotho level with normal eGFR, FGF23, serum phosphate, and FEP in an ADPKD patient with enlarged kidneys due to multiple cysts. [Journal Article]
- CCCEN Case Rep 2018 May 16
- Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder. ADPKD is characterized clinically by the presence of multiple bilateral renal cysts that lead to chr...
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder. ADPKD is characterized clinically by the presence of multiple bilateral renal cysts that lead to chronic renal failure. The cysts evolve from renal tubular epithelial cells that express the Klotho gene. Notably, Klotho acts as a co-receptor for fibroblast growth factor 23 (FGF23); in this context, it induces phosphaturia and maintains serum phosphate at a normal level. Many reports have shown that decreases in the soluble Klotho level and increases in the FGF23 level are associated with glomerular filtration rate (GFR) decline, but a recent study observed these changes in patient with normal eGFR. It remains unclear whether the decrease in the Klotho level precedes the increase in FGF23. Here, we present an ADPKD patient with enlarged kidneys due to multiple cysts who had a decreased soluble Klotho level but a normal eGFR and a normal FGF23 level. The patient's serum phosphate level was normal, as was the fractional excretion of phosphate (FEP). This appears to be the first reported case to show a decreased soluble Klotho level plus normal eGFR, FGF23, and FEP. These results suggest that Klotho decreases before FGF23 increases and further suggest that Klotho is not required to maintain normal serum phosphate levels in ADPKD if the FEP and serum phosphate levels are normal.
- [CEUS-diagnosis of solid renal tumors]. [Review]
- RRadiologe 2018 May 16
- Renal lesions are detected earlier, often as a result of ultrasound examinations. However, the imaging-based differential diagnosis of different tumour entities remains challenging STANDARD RADIOLOGI...
Renal lesions are detected earlier, often as a result of ultrasound examinations. However, the imaging-based differential diagnosis of different tumour entities remains challenging STANDARD RADIOLOGICAL METHODS: All renal tumours >1 cm should be evaluated for malignancy by computed tomography (CT) or magnetic resonance imaging (MRI). If an angiomyolipoma diagnosis cannot be established with imaging, further diagnostics are appropriate or if malignant progression is suspected, then multidisciplinary discussion for TNM-staging based uro-oncologic therapy is usual.
- Case Report: Identification of an HNF1B p.Arg527Gln mutation in a Maltese patient with atypical early onset diabetes and diabetic nephropathy. [Journal Article]
- BEBMC Endocr Disord 2018 May 15; 18(1):28
- CONCLUSIONS: This report highlights several atypical features in a proband with atypical diabetes associated with an HNF1β missense mutation. It also reinforces the concept that monogenic causes of diabetes could be significant contributors to disease burden in obese individuals with atypical diabetes.
- COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect? [Journal Article]
- BNBMC Nephrol 2018 May 16; 19(1):114
- CONCLUSIONS: A modifier role of LAMA5 on the background of a hypomorphic Alport syndrome causing mutation is a possible explanation of our findings. Digenic inheritance is another scenario, following the concept that mutations at both loci more accurately explain the spectrum of symptoms, but further investigation is needed under this concept. This is the third report linking a LAMA5 variant with human renal disease and expanding the spectrum of genes involved in glomerular pathologies accompanied by familial hematurias. The cystic phenotype overlaps with that of a mouse model, which carried a Lama5 hypomorphic mutation that caused severely reduced Lama5 protein levels and produced kidney cysts.
- StatPearls [BOOK]
- BOOKStatPearls Publishing: Treasure Island (FL)
- A simple kidney cyst is a pocket of fluid which originates from the surface of the kidney and is contained by a thin wall. One or more simple cysts may form within the kidneys. The simple cyst is the...
A simple kidney cyst is a pocket of fluid which originates from the surface of the kidney and is contained by a thin wall. One or more simple cysts may form within the kidneys. The simple cyst is the most common type of renal cyst.
- A patient with an unusual cyst of the inter-atrial septum and atrial sepal defect. [Journal Article]
- EEchocardiography 2018 May 14
- Hepatic and renal cysts are relatively common among healthy people, but there are few published reports of primary cysts of the atrial septum. Here, we report a case of an unusual cyst of the atrial ...
Hepatic and renal cysts are relatively common among healthy people, but there are few published reports of primary cysts of the atrial septum. Here, we report a case of an unusual cyst of the atrial septum accompanied by atrial septal defect (ASD) in a 42-year-old woman. Microscopic examination showed the deposition of calcium salts within the tissue mass and an organized thrombus surrounded by a fibrous capsule. The case was discussed with reference to the relevant published literature and compared to other documented types of atrial septal cysts. The final diagnostic conclusion was a primary atrial septal cyst.
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- Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease. [Journal Article]
- JPedJ Pediatr 2018 May 09
- CONCLUSIONS: This study, which identified risk factors associated with onset of dialysis in ARPKD in the first year of life, may be helpful in prenatal parental counseling in cases of suspected ARPKD.