Nefrología 2016-11-22 | doi: 10.1016/j.nefro.2016.09.012

Segmental tuberous sclerosis in a patient with chronic kidney disease


a Tepecik Education and Research Hospital, Nephrology, İzmir, Turkey
b Van Education and Research Hospital, Dermatology, Van, Turkey
c Van Education and Research Hospital, Pathology, Van, Turkey

33-year-old woman presented with fatigue and renal failure. On physical examination, the patient had multiple non-traumatic periungual fibromas in both hands and feet (Fig. 1a). Shagreen patch was seen in the right lumbosacral region (Fig. 1b). On admission biochemical tests revealed; urea: 132mg/dl, creatinine:4.7mg/dl, potassium: 4.7mmol/L, GFR 12ml/min/1.73m2 (MDRD), pH 7.32, HCO3: 18.4. Renal ultrasonography revealed bilateral renal cysts (17 and 5mm at right kidney, 6 and 10mm at left kidney) with normal size and parenchymal thickness. Histopathology of the Shagreen patch revealed dense collagen bundles in the dermis arranged in a haphazard manner (HEX40) (Fig. 1c). Due to these skin lesions and renal cysts the patient was diagnosed as TS (two major+1 minor components). She denied any seizures in her past medical history. Renal biopsy was suggested but she did not accept the procedure yet and medical treatment was given. During the outpatient follow up creatinine level progressed up to 10mg/dl. Due to low GFR and uremic symptoms hemodialysis was started and arteriovenous fistula was created.

Fig. 1.

(A) Ungual fibroma. (B) Shagreen patch. (C) Shagreen patch. Biopsy specimen; collagen bundles in the dermis arranged in a haphazard manner (HEX40).

TS complex is a multisystem, rare and genetic disorder of autosomal dominant inheritance which can involve different organs. It is caused by damage to the TSC1 (9q34) or TSC2 (16p13) genes coding respectively for hamartin and tuberin. Skin involvement is the commonest presentation of the disease. Recognizing specific dermatologic lesions, especially hypomelanotic macules (>3), Shagreen patch, forehead plaque, non-traumatic periungual fibromas, adenoma sebaceum, facial angiofibromas should remind the physicians TS. Renal involvement has the leading importance for mortality and morbidity. Kidneys are involved in almost 50–80% of the patients. The most frequent renal lesions in TS are angiomyolipomas and renal cysts. Bilateral and multiple characteristics of angiomyolipomas are primary radiological clues for suspicion and diagnosis. However in some rare cases these patients may present without frank renal lesions. These patients with renal involvement may also present with end stage renal disease in adult ages. TS is accepted as a glomerulocystic disease. They may occur in every part of the nephron. Renal cystic disease can also be microcystic, undetectable by imaging studies. The limited or obscure manifestations of TS with renal failure can be detected in nephrology practice.

Conflict of interest

The authors declare no conflict of interest.

Órgano Oficial de la Sociedad Española de Nefrología
Contactar | Web Map | Aviso legal