Case Report
Isolated Renal Sarcoidosis: A Rare form of the Disease
Azat Kapan, Ergün Parmaksiz, Elif Torun Parmaksiz
Middle East Journal of Medical Case Reports; 12-14.
DOI: https://doi.org/10.36348/merjmcr.2025.v05i02.001
Introduction: Sarcoidosis is a multi-system disease characterized by frequent involvement of the lungs. Other organ manifestations without accompanying lung findings are extremely rare. Kidneys may be rarely affected. We present a case, who presented with hypercalcemia, had no lung involvement, and was diagnosed with isolated renal sarcoidosis by renal biopsy. Case: A 76-year-old female patient, who applied with complaints of fatigue and dry mouth, was examined after the examinations revealed increased creatinine and hypercalcemia. Serum creatinine was 4.46 mg/dl, her calcium, parathormone, 1,25-dihydroxy-vitamin D, and serum ACE levels were elevated. She had been examined for hypercalcemia for 5 years, and a diagnosis could not be made. A renal biopsy was performed due to creatinine progression, hypercalcemia and high 1,25-dihydroxy-vitamin D levels. The biopsy was consistent with sarcoidosis-associated interstitial nephritis. Corticosteroids were administered and she responded well. Conclusion: It is crucial to keep extrapulmonary sarcoidosis in mind in patients with hypercalcemia and elevated serum ACE, even in the absence of lung involvement. Although rare, extrapulmonary forms of sarcoidosis can also be seen isolated.
Research Article
Pena-Shokeir Syndrome: A Case Report of Two Siblings with Type 1. First Case from Africa
Veli Karabuga, Hamza Yazgan, Bülent Gürler, Mahamadou Fode Diarra
Middle East Journal of Medical Case Reports; 15-18.
https://doi.org/10.36348/merjmcr.2025.v05i02.002
Abstract: Pena-Shokeir Syndrome is a rare genetic disorder, categorized into Type 1 and Type 2. PSS Type 1, characterized by pulmonary hypoplasia, joint contractures, and facial anomalies, typically results in intrauterine or early neonatal death. Approximately 100 cases of PSS Type 1 have been reported. This case report describes two siblings affected by PSS Type 1, born to a mother with a history of 3 miscarriages and with a healthy first child. It underscores both the clinical and genetic aspects of this rare syndrome.
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