SM Journal of Nephrology and Kidney Diseases

Archive Articles

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Beyond Percutaneous Nephrolithotomy: Embracing Retrograde Intrarenal Surgery for Large Renal Stones: Prospective Randomized Study

Background: Retrograde intrarenal surgery (RIRS) and percutaneous nephrolithotomy (PCNL) are two common procedures used to treat large renal stones. This work aimed to evaluate the safety and efficacy of flexible ureterorenoscopy with laser lithotripsy (FURSL) in the management of large renal stones in comparison with the gold standard PCNL for the management of large renal stones 25 – 40 mm in size.

Methods: This prospective study was carried out on 100 patients who received RIRS or PCNL for renal stones with sizes ranging from 25 mm to 40 mm. The research was composed of two groups: the PCNL group (n= 50) and the FURSL group (n= 50). with exclusion of cases with anatomical abnormalities, cases with history of previous surgery patient with coagulopathy.

Results: The location of the stone was significantly varied among both groups (P value =0.006). Operative time was significantly higher in Group FURS than Group PCNL (P value <0.001) and hospital stay was significantly lower in Group FURSL than Group PCNL (P value <0.001). Complications (fever, colonic injury, stein Struss, haematuria, and bleeding) were insignificantly variant among both groups. The total number of patients who needed auxiliary procedure like 2nd session of FURSL were significantly higher in Group FURSL than in Group PCNL (P value <0.001). need for ESWL as auxiliary procedures were insignificantly variant among both groups.

Conclusion: Both FURS and PCNL have shown safety and efficacy in managing sizable renal stones. The selection between each technique should be individual according patient factors and urologist preference.

Haitham Mahmoud Shello1*, Mahmoud Gabril2, Abdelaziz Elhendawy2 and Adel Farahat3


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Identification and Functional Analysis of a Novel SLC12A3 Mutation in Gitelman Syndrome

Background: Gitelman syndrome (GS) is a rare autosomal recessive disorder caused by mutations in the SLC12A3 gene, which encodes the sodium-chloride (Na-Cl) cotransporter (NCC). GS is characterized by salt-losing tubulopathy, which leads to renal potassium loss, hypokalemia, metabolic alkalosis, hypocalciuria, hypomagnesemia, and hyperreninemic hyperaldosteronism. GS can increase the risk of developing type 2 diabetes mellitus.

Case presentation: We report the case of Japanese patient with GS who had suffered from hypokalemia for over a decade, and subsequently developed diabetes. The results of detailed biochemistry and diuretic stress tests suggested a diagnosis of GS.

Results: Genetic exome sequencing revealed both heterozygous c.835A>G (p.Met279Val) and homozygous c.791C>G (p.Ala264Gly) mutations in the SLC12A3 gene. Further in silico variant prediction and structural analyses revealed that the heterozygous c.835A>G (p.Met279Val) mutation in the SLC12A3 gene was the predominant pathogenic variant. Modeling and structural analyses suggested that this mutation contributes to the NCC salt-bridge conformation and leads to impaired Na-Cl transport.

Conclusion: We present a case of GS with a novel SLC12A3 gene mutation that has not been previously reported. Genetic testing and structural analysis are essential for the accurate diagnosis and understanding of the renal tubular pathology in GS.

Hiraku Chiba1, Yutaka Hasegawa1*, Yuichiro Kezuka2,3, Ai Chida1, Eriko Yoshida1, Toshie Segawa1, Tomoyasu Oda1, Yoshihiko Takahashi1, Takuya Noguchi4, Koji Nata4, and Yasushi Ishigaki1


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Impact of Urinary Incontinence on quality of Life of women in Pakistan: A Qualitative Analysis

Purpose: This study seeks to explore the lived experiences and viewpoints of individuals with Urinary Incontinence (UI) and evaluate how the condition affects their quality of life. Through comprehensive interviews, the research aims to identify the physical, emotional, and social effects of UI experienced by affected individuals. A particular emphasis is placed on gaining a deeper understanding of the cultural and contextual factors that may influence these experiences among Pakistani women. This research seeks to fill a gap in existing international questionnaires, which often overlook the religious aspects relevant to our cultural norms and spiritual context. The results will contribute to the development of a culturally sensitive and population-specific assessment tool.

Design: Qualitative study with content analysis.

Subjects and Setting: The study sample included 15 patients with a mean age of 35 years, diagnosed with urinary incontinence. All participants were recruited from the Urogynecology Clinics at Aga Khan University Hospital.

Methods: Fifteen audio recorded interviews were conducted. A qualitative content analysis using an inductive approach was conducted to organize and interpret the study’s findings.

Results: Six primary themes were identified, including (1) Impact on daily life activities (2) Impairment in religious practices (3) Influence on social and interpersonal relationships (4) Psychological impact (5) Coping mechanisms (6) Barriers to effective healthcare engagement.

Conclusions: The study results indicate that UI has a substantial impact on various aspects of women’s lives, affecting not only physical health but also emotional well-being, social engagement, daily activities, and religious practices. The study highlights that women utilize various coping strategies to manage their condition, yet encounter significant barriers in accessing effective healthcare services. These insights emphasize the importance of developing culturally appropriate assessment tools that incorporate religious aspects.

Nazish Baloch, Urooj Kashif, Anum Malik, Maria Ali Shah and Novera Chughtai1*