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1.
Cureus ; 15(9): e44513, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37790056

RESUMO

Pelvic organ prolapse (POP) is a common condition mainly affecting postmenopausal women, characterized by the descent of pelvic organs through the vaginal canal. While often asymptomatic, POP can manifest with various symptoms such as a painless bulge or pressure sensation, abdominal pain, urinary complaints, and discomfort during intercourse. Severe cases can lead to urinary tract obstruction, hydronephrosis, and renal dysfunction. This case study presents an elderly female with bilateral severe hydronephrosis and pyelonephritis due to undiagnosed POP. Imaging revealed obstructive uropathy resulting from bilateral ureteric compression caused by cystocele and uterine prolapse. The patient's condition improved with antibiotics and supportive management. A vaginal hysterectomy was performed, which led to the resolution of the urinary tract obstruction. This case emphasizes the importance of considering POP in elderly women with urinary symptoms and the need for proactive screening. It highlights the significance of appropriate management to prevent irreversible renal damage. Different treatment modalities, including surgery and pessaries, are discussed, to emphasize the significance of tailoring treatments to individual patient characteristics.

2.
Cureus ; 15(8): e43928, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37746375

RESUMO

Kindler syndrome (KS) is an autosomal recessive genodermatosis characterized by skin atrophy, blistering, photosensitivity, and mucosal inflammation. We present a unique case of KS with early and severe neonatal onset in a two-month-old female who presented with severe failure to thrive (FTT) and chronic diarrhea since birth. The infant also had multiple fluid-filled cysts on her foot since birth, which resolved and reappeared at different sites. Anemia, hyponatremia, and coloboma of the right iris were also observed. Whole exome sequencing revealed a homozygous mutation in the FERMT1 gene, confirming the diagnosis of KS. Our case demonstrates a distinct clinical phenotype involving severe colitis and FTT in addition to the typical skin manifestations of KS. This atypical presentation highlights the need for further investigations to gain insights into the impact of the kindlin-1 defect on organs beyond the skin and to explore potential therapeutic approaches for managing severe colitis in affected patients.

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