Erkoca A., Ünver E. G., Oktan M. A., Deligöz Bildacı Y.
22nd European Congress of Internal Medicine, İstanbul, Türkiye, 6 - 09 Mart 2024, ss.650, (Özet Bildiri)
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Yayın Türü:
Bildiri / Özet Bildiri
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Doi Numarası:
10.12890/2024_v11sup1
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Basıldığı Şehir:
İstanbul
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Basıldığı Ülke:
Türkiye
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Sayfa Sayıları:
ss.650
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Dokuz Eylül Üniversitesi Adresli:
Evet
Özet
Introduction: Sarcoidosis is a systemic disease of unknown aetiology characterized by non-caseous granulomas. In our case, the patient experienced renal failure attributed to sarcoidosis, leading to her enrolment in a haemodialysis program. Upon identifying the underlying cause of chronic kidney damage, we successfully eliminated the need for haemodialysis through immunosuppressive treatment.Case: A 55-year-old woman presented with a history of malaise, leg swelling, and weight loss over the past three months. Laboratory tests unveiled anaemia, renal failure, hypercalcemia, elevated acute phase markers, glucosuria, non-nephrotic proteinuria. Imaging studies were conducted, revealing multiple mediastinal, hilar lymphadenopathies of pathological size. Histopathological examination of the mediastinal lymph node confirmed the presence of non-caseous granulomas. As chronic renal failure was evident, haemodialysis treatment was initiated. Considering a potential diagnosis of renal sarcoidosis, a renal biopsy was scheduled. However, the biopsy could not be performed due to the thinness of the renal parenchyma. The patient commenced immunosuppressive treatment, receiving Methylprednisolone and Azathioprine. Subsequent monitoring revealed a decline in serum creatinine levels, an increase in urination frequency, and the cessation of the need for haemodialysis.Discussion: In our case, uncovering the aetiology of end-stage renal failure eliminated the necessity for continued chronic haemodialysis treatment.Therefore, we consider our patient, initially diagnosed with end-stage renal failure, and enrolled in a routine haemodialysis program, as a noteworthy case. This underscores the significance of persistent efforts in elucidating the aetiology of chronic kidney damage, especially in situations where renal biopsy may not be feasible.Keywords: renal failure, sarcoidosis, haemodialysis treatmentFigure 1. Monitoring of serum creatinine throughout patient’s treatment.Table 1. Tests performed on the patient at the time of admission.[Abstract:1081]GITELMAN’S SYNDROME: A RARE CAUSE OF RHABDOMYOLYSIS OR AN EVEN RARER ASSOCIATION WITH AN INFLAMMATORY MYOPATHY?Yosr Boussoukaya, Maissa Thabet, Ahmed Guiga, Oumaima Chouchene, Wissal Ben Yahia, Amira Atig, Neirouz Ghannouchi Internal Medecine department, Farhat Hached university hospital, Sousse, TunisiaIntroduction: Gitelman syndrome is a rare, autosomal recessive disorder characterised by hypokalaemia, metabolic alkalosis, hypomagnesaemia, hypocalciuria and hypertension.Observation: A 37-year-old female patient, presented with general muscle weakness with oedema and rhabdomyolysis.Biology showed hyponatremia with hyperkalaemia without renal failure. An inflammatory myopathy was suspected and the patient had corticosteroids and plasma exchange. rhabdomyolysis disappeared but a persistent refractory hypokalaemia appeared.Gitelman’s syndrome was diagnosed. Immunology tests and muscle biopsy were normal. On tapering, she presented swallowing problems with abnormal oesophageal manometry and dysphonia with normal ENT examination, a spike in rhabdomyolysis despite potassium supplementation.Discussion: Gitelman’s syndrome is an inherited tubulopathy, consisting of a mutations in the gene coding for the thiazide-sensitive Na-Cl transporter in the distal tubule.It is revealed by cramps in the arms and legs, fatigue ranging