Ehlers-Danlos syndrome coexisting with juvenile nephronophtisis |
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Authors: | Tarrass Faissal Benjelloun Meryem Hachim Khadija Benghanem Mohamed G Ramdani Benyounes Zaid Driss Benkirane Amal Sqalli Saida |
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Affiliation: | Department of Nephrology, Ibn Rochd Hospital, Casablanca, Morocco. faissal176@hotmail.com |
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Abstract: | Ehlers-Danlos syndrome (EDS), a heterogeneous disease of the connective tissues, is diagnosed by a triad of symptoms that include skin hyperextensibility, joint hypermobility and connective tissue fragility. Nephronophtisis (NPH) is an autosomal recessive interstitial nephritis leading to terminal renal insufficiency around puberty. The occurrence of these two rare diseases together is unusual. A review of the literature discloses no case of this association. We report here on a 16-year-old man with undiagnosed EDS, who was referred to our hospital because of renal insufficiency, history of polyuria and polydipsia. Renal ultrasound showed normal kidney size, with a lack of corticomedullary differentiation. Renal biopsy specimen disclosed chronic tubulointerstitial nephritis resembling NPH. Further evaluation identified hypermobile joints and hyperextensible skin, which led to the diagnosis of the EDS. These data suggest that patients with EDS need to be evaluated carefully for the presence of renal anomalies. |
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Keywords: | autosomal recessive inheritance connective tissue disorders cystic kidney disease Ehlers–Danlos syndrome end-stage renal disease nephronophtisis |
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