Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes

Peces, R; Peces, Carlos; Mena, Rocío; Cuesta, Emilio; García-Santiago, Fé Amalia; Ossorio, Marta; Afonso, Sara; Lapunzina, Pablo; Nevado, Julián

doi:10.3390/genes13030394

Cited by 2 publications

(1 citation statement)

References 72 publications

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“…Ramon Peces and Jorge Mart'nez-ara discovered that ACKD develops not only in dialysis patients but also in those who have the pre-existing renal disease before starting RRT. ACKD in patients with chronic renal disease may predispose them to RCC both before and after RRT (Peces, 2022).…”

Section: Discussionmentioning

confidence: 99%

Concomitant existence of malignant pathology in one kidney and benign pathology in the contralateral kidney, staged management to preserve maximum kidney function: An unusual case report

Reddy¹,

Dharmashi²,

Dhale³

et al. 2023

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Patients may have benign disorders such pelvic ureteric junction blockage, renal stone, angiomyolipoma, or renal cyst as well as unilaterally or bilaterally symmetrical malignant conditions like renal cell carcinoma sarcoma. But it is an uncommon occurrence to be presented when malignant pathology occurs in one kidney and benign pathology in the opposite kidney in the same patient. Since the presentation is uncommon, each kidney pathology must be managed stage-by-stage in order to maintain optimum renal function. Our patient, a 40-year-old woman, complained of stomach pain and frequent vomiting for seven to ten days when she first came in. Upon clinical examination, a palpable, non-tender mass was seen in the left lumbar area. An abdominal and pelvic ultrasound (USG) reveals a solid mass measuring 6.8 × 6 cm in the right kidney's upper pole with doppler vascularity indicative of a renal tumour and a left kidney pelvic ureteric junction blockage with extensive hydronephrosis. CECT Abdomen: A right-sided heterogeneously enhancing soft tissue renal mass measuring 72 x 63 x 62 mm (trans x ap x cc) arising from the upper pole on the CECT scan, along with pelvic-ureteric junction obstruction in the left kidney (UPJO). To retain the maximum amount of kidney function, the patient underwent staged surgical treatment. The main reason to report this case is as we have a patient with a malignant condition in one kidney and with a benign condition in the contralateral kidney. It is an unusual presentation and such a patient requires staged surgical management for the better preservation of both kidneys' functions.

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Section: Discussionmentioning

confidence: 99%

Concomitant existence of malignant pathology in one kidney and benign pathology in the contralateral kidney, staged management to preserve maximum kidney function: An unusual case report

Reddy¹,

Dharmashi²,

Dhale³

et al. 2023

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Analysis of partial Y chromosome microdeletions and NGS data in Lithuanian infertile men

Čižaitė,

Žukauskaitė,

Tumienė

2024

Preprint

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Infertility is a complex pathological condition that affects the male population worldwide. Male infertility is often caused by changes in the morphology and number of spermatozoa. Many of infertility cases remain unexplained, genetic causes are being discovered, including changes in chromosomes and single genes. While Y chromosome microdeletions are the most common cause of spermatogenesis disorders, failure to identify them leads to the search for new candidate genes, de novo pathogenic genomic variants associated with male infertility using next generation sequencing. The aim of this study is to investigate genetic profile of infertile men in the Lithuanian population using candidate gene approach as well as to evaluate the significance of partial Y chromosome microdeletions. The obtained results showed that the detected partial Y chromosome (sY121, sY1192, sY153 and sY1191 markers) microdeletions in the azoospermia factor region do not explain infertility cases and require more research. After candidate-gene next generation sequencing analysis in the cohort of 18 infertile men from Lithuania, genome variants in genes DPY19L2, DCC, and MTHFR were identified for three (17%) individuals, confirming the infertility phenotype. In five (28%) of individuals variants of uncertain clinical significance were identified in BRCA1, BRCA2, PKD1, CSMD1, SBF1, DNAH8, and TP63 genes, which are potentially associated with male infertility. This confirms that the next generation method based on the supplemented gene candidate list is useful for the identification of genetic causes of male infertility.

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Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes

Cited by 2 publications

References 72 publications

Concomitant existence of malignant pathology in one kidney and benign pathology in the contralateral kidney, staged management to preserve maximum kidney function: An unusual case report

Concomitant existence of malignant pathology in one kidney and benign pathology in the contralateral kidney, staged management to preserve maximum kidney function: An unusual case report

Analysis of partial Y chromosome microdeletions and NGS data in Lithuanian infertile men

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