RESUMO
Background: Prior research has assessed a range of surgical treatments for pediatric urolithiasis, emphasizing the necessity of tailor-made therapeutic approaches. These studies also show the adaptability of percutaneous nephrolithotomy (PCNL), retrograde intrarenal surgery (RIRS), and shock wave lithotripsy (SWL) in managing diverse stone dimensions. The goal of this research was to examine the effectiveness of these varying surgical methods in treating pediatric urolithiasis. Methods: Seven digital databases were explored to gather pertinent studies, following the guidelines established by the PRISMA protocol. The retrieved studies were subsequently scrutinized to draw comparisons between the stone-free rate (SFR) and the rate of complications associated with PCNL, RIRS, and SWL. Results: The SFR evaluation revealed no notable disparity between PCNL and RIRS [odds ratio (OR) 1.43, 95% confidence interval (CI): 0.67-3.05, P=0.36]. However, it was observed that both PCNL and RIRS outperformed SWL in terms of effectiveness (OR 2.51, 95% CI: 1.19-5.29, P=0.02 and OR 2.42, 95% CI: 1.41-4.14, P=0.001 respectively). Regarding the complication rates, no significant differences were observed among the three surgical methods (OR 0.67, 95% CI: 0.49-1.59, P=0.05), albeit with various forms of complications being reported. Certain studies associated PCNL with an elevated rate of complications, specifically urinary tract infections (UTIs) and severe hematuria. Conclusions: Though PCNL and RIRS demonstrated higher effectiveness than SWL in achieving SFR, there was no significant disparity in the rates of complications across all three procedures. The study underscores the significance of personalized treatment plans, taking into account aspects such as the dimension and location of the stone, along with patient-specific characteristics.
RESUMO
BACKGROUND: Lipodystrophy is a relatively rare, complex disease characterised by a deficiency of adipose tissue and can present as either generalised lipodystrophy (GLD) or partial lipodystrophy (PLD). The prevalence of this disease varies by region. This study aimed to identify the genetic variations associated with lipodystrophy in the southern part of Saudi Arabia. METHODOLOGY: We conducted a retrospective study by recruiting nine patients from six families, recruiting the proband whole exome sequencing results or any other genetic test results, screening other family members using Sanger sequencing and analysing the carrier status of the latter. These patients were recruited from the Endocrinology and Diabetes Clinic at Jazan General Hospital and East Jeddah Hospital, both in the Kingdom of Saudi Arabia. RESULT: Eight patients were diagnosed with GLD, and one was diagnosed with PLD. Of the six families, four were consanguineously married from the same tribe, while the remaining belonged to the same clan. The majority of GLD patients had an AGPAT2 c.158del mutation, but some had a BSCL2 c.942dup mutation. The single PLD case had a PPARG c.1024C > T mutation but no family history of the disease. In all families evaluated in this study, some family members were confirmed to be carriers of the mutation observed in the corresponding patient. CONCLUSION: Familial screening of relatives of patients with rare, autosomal recessive diseases, such as lipodystrophy, especially when there is a family history, allows the implementation of measures to prevent the onset or reduced severity of disease and reduces the chances of the pathogenic allele being passed onto future generations. Creating a national registry of patients with genetic diseases and carriers of familial pathogenic alleles will allow the assessment of preventive measures and accelerate disease intervention via gene therapy.