BACKGROUND: Xanthogranulomatous pyelonephritis (XGP) is a rare chronic pyelonephritis that often mimics other renal diseases, when combined with autosomal dominant polycystic kidney disease(ADPKD), preoperative diagnosis is exceedingly difficult. It is important for clinicians to be aware of an XGP with ADPKD since a misdiagnosis can lead to unnecessary surgical intervention.
METHODS: Here, we report a case of a 66-year-old female with a history of bilateral ADPKD and urinary tract infection admitted to our hospital due to right flank pain, feeble, and low-grade fever. Contrast-enhanced ultrasound revealed a malignant mass of the right kidney suspected to be a cystic renal cell carcinoma with polycystic kidney disease. In addition, contrast-enhanced computed tomography (CT) and fluorine 18 fluorodeoxyglucose PET/CT (18F FDG PET/CT) showed similar results. Subsequently, the patient underwent a right radical nephrectomy, but histopathological examination revealed XGP with ADPKD. On the follow-up, the patient\'s symptoms were relieved.
CONCLUSIONS: XGP should be kept in mind during the differential diagnosis of renal masses with ADPKD even in the absence of characteristic clinical symptoms and imaging manifestations.

BACKGROUND: Bardet-Biedl syndrome (BBS) and autosomal dominant polycystic kidney disease (ADPKD) are renal ciliopathies. BBS has 22 pathogenic genes, and ADPKD is mainly caused by PKD1 and PKD2 variants. Cases with tri-allelic variants of BBS and PKD1 are rare.
METHODS: The proband was an 11-year-old Chinese male with cysts in both kidneys, blurred vision, hyperopia, and short fingers and toes. The patient underwent a kidney transplant due to rapid deterioration of renal failure. During follow-up, a smaller field of vision, a slow increase in height, and a weight gain were observed. In addition, renal function and anemia were improved. High-throughput sequencing analysis showed two heterozygous variants in BBS2 (c.563delT (p.I188Tfs*13) inherited from the father and c.534+1G > t (splicing) from the mother) and one heterozygous variant in PKD1 (c.6223C > T (p.R2075C)) inherited from the mother.
CONCLUSIONS: This paper reported a ciliopathy patient with multi-allelic variants (two BBS2 variants and one PKD1 variant) that may lead to early symptoms and more rapid progression. An early genetic diagnosis may contribute to predicting disease progression and guiding management and follow-up.

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Ferroptosis is a form of iron-dependent, non-apoptotic regulated cell death, which is characterized by the accumulation of lipid hydroperoxides to lethal levels. Ferroptosis recently has been shown to have implications in diverse kidney diseases, such as acute kidney injury, polycystic kidney disease and renal cell carcinoma. This review summarizes current research on ferroptosis, its underlying mechanisms and its role in the progression of different kidney diseases to provide more information regarding treatment and prevention of these destructive diseases.

Polycystic kidney disease (PKD) and Alport syndrome (AS) are serious inherited disorders associated with renal disease, and thalassemia is a hereditary blood disease with a high prevalence in south China. Here, we report an exceptional PKD coincidence of thalassemia minor and AS (diagnosed genetically) in a large Chinese family. Whole genome next-generation sequencing (NGS) was performed on the proband, and all family members underwent clinical evaluation. Sanger sequencing was used to validate the mutations distinguished by NGS. The pathogenic potential of the variants were evaluated by Polymorphism Phenotyping v2 (PolyPhen-2), Sorting Intolerant From Tolerant (SIFT) algorithm, and MutationTaster. Immunohistochemical, Western blot, immunofluorescent, and TdT-mediated dUTP nick-end labeling (TUNEL) analyses were performed to investigate polycystin 1 (PC1) expression, and cell proliferation and apoptosis in kidney tissues from the proband and normal control. A novel frameshift polycystic kidney disease 1 (PKD1) mutation (c.3903delC, p.A1302Pfs) was identified to be responsible for renal disease in this family. PC1 expression, and cell proliferation and apoptosis were significantly increased in the kidney tissues of the proband. Moreover, a deletion of approximately 19.3 kb of DNA with α-globin genes (_ _SEA) was associated with thalassemia minor in the family. In addition, a collagen type IV α 5 chain (COL4A5) variant (c.2858G>T, rs78972735), annotated as a pathogenic mutation in dbSNP and human gene mutation database (HGMD), was found in four family members with no clinical traits of AS. A novel pathogenic PKD1 mutation (c.3903delC) and (_ _SEA) thalassemia deletion were found to be responsible for the clinical symptoms in this family. The reported pathogenic COL4a5 variant (c.2858G>T, rs78972735) was not pathogenic alone.

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD, autosomal dominant PKD or adult-onset PKD) is the most prevalent and potentially lethal kidney disease that is hereditary and lacks effective treatment. Preimplantation genetic diagnosis (PGD) of embryos in assistant reproductive technology (ART) helps to select mutation-free embryos for blocking ADPKD inheritance from the parents to their offspring. However, there are multiple pseudogenes in the PKD1 coding region, which make blocking ADPKD inheritance by PGD complicated and difficult. Therefore, this technique has not been recommended and used routinely to ADPKD family plan.
RESULTS: Here, we report a new strategy of performing PGD in screening (target-) mutation-free embryos. We firstly used a long-range PCR amplification and next generation sequencing to identify the potential PKD1 mutant(s). After pathogenic variants were detected, multiple annealing and looping-based amplification cycles (MALBAC), a recently developed whole genome amplification method, was used to screen embryo cells. We successfully distinguished the mutated allele among pseudogenes and obtained mutation-free embryos for implantation. The first embryo transfer attempt resulted in a healthy live birth free of ADPKD condition and chromosomal anomalies which was confirmed by aminocentesis at week 18 of gestation, and by performing live birth genetic screening.
CONCLUSIONS: The first MALBAC-PGD attempt in ADPKD patient resulted in a healthy live birth free of ADPKD and chromosomal anomalies. MALBAC-PGD also enables selecting embryos without aneuploidy together and target gene mutation, thereby increasing implantation and live birth rates.

BACKGROUND: The aim of this study was to assess the functional and oncologic outcomes of percutaneous radiofrequency ablation (RFA) with contrast-enhanced ultrasonography (CEUS) for renal cell carcinoma in patient with autosomal dominant polycystic kidney.
METHODS: We performed a retrospective review of five patients with renal cell carcinoma (RCC) in autosomal dominant polycystic kidney disease (ADPKD) from January 2009 to December 2014 with a media follow-up of 33 months. The tumors were ablated with Cool-tip RFA system under the guidance of CEUS. Routine follow-up included contrast-enhanced computed tomography/magnetic resonance imaging (CT/MRI) and renal function tests.
RESULTS: Media diameter of the treated renal tumors was 3.1 cm (range 1.7-5.2 cm). Initial ablation success rate was 4/5. After over 6 months contrast-enhanced CT/MRI follow-up after RFA, no patients experienced local tumor recurrence. No patients required dialysis in the periprocedural period. Minor complications only developed in two cases. There was no significant difference in estimated glomerular filtration rate (eGFR) between pre- and post-RFA.
CONCLUSIONS: Our initial experience of this technique for RCC in ADPKD was favorable with good renal function preservation and oncologic outcomes. It may be a good choice for RCC in ADPKD.

Autosomal dominant polycystic kidney disease (ADPKD), one of the most common genetic disorders, is caused by mutations in the PKD1 or PKD2 gene. ADPKD primarily affects the kidneys, causing the development of multiple bilateral cysts that are characteristic of this condition. Besides renal abnormalities, other manifestations of ADPKD include hepatic, pancreatic, and splenic cysts, intracranial aneurysms, aortic aneurysms, and mitral valve prolapse. Reports of ADPKD-associated abdominal aortic dissections are not rare, but there have been no reports of an ADPKD patient developing intestinal obstruction and abdominal aortic dissection after initiating peritoneal dialysis. Herein, we present one such case.