Letter to the Editor Nephron 2000;86:195–196 Nephrotic Syndrome and Amyloid A Amyloidosis in a Patient with Erdheim-Chester Disease R. Enrı´quez a J.B. Cabezuelo a M. Martı´nez b J. Sa ´ez b A.E. Sirvent a F. Amoro ´s a A. Reyes a a Nephrology Section and b Diagnostic Radiology Service, Hospital General de Elche, Spain Dr. R. Enrı ´quez Seccio ´ n de Nefrologı ´a, Hospital General de Elche Ptda Huertos y Molinos s/n E–03203 Elche/Alicante (Spain) ABC Fax + 41 61 306 12 34 E-Mail karger@karger.ch www.karger.com © 2000 S. Karger AG, Basel 0028–2766/00/0862–0195$17.50/0 Accessible online at: www.karger.com/journals/nef Dear Sir, Erdheim-Chester disease (ECD) is a rare systemic xanthogranulomatous infiltrative disorder. It is included in the histiocytosis spectrum and some authors consider that it is clearly differentiated from X histiocytosis (Langerhans cell histiocytosis) by its histo- logical and radiographic features [1]. Renal complications in ECD are related to obstruc- tive nephropathy due to retroperitoneal fi- brosis or perirenal soft tissue infiltration [2– 4]. We describe a patient with radiological abnormalities of ECD, nephrotic syndrome and amyloid A amyloidosis. A 48-year-old man was admitted because of proteinuria. He complained of pain in both legs over the previous 2 years and ede- ma in the lower limbs during the last 2 months. On physical examination the fol- lowing findings were significant: blood pres- sure 110/60 mm Hg, afebrile, pitting edema in the legs up to the knees; the rest was nor- mal. Laboratory tests showed: hemoglobin 10.3 g/dl, thrombocytes 660,000/Ìl, ESR 140 mm, coagulation studies were normal; fibrinogen 1,070 mg/dl, glucose 3.88 mmol/l (70 mg/dl), total protein 40 g/l, serum albu- min 18 g/l, total cholesterol 7.03 mmol/l (272 mg/dl), triglycerides 2.67 mmol/l (237 mg/dl), IgG 3.55 g/l, C-reactive protein 87.5 mg/l. Urea, creatinine, electrolytes, al- kaline phosphatase, CK, LDH, liver func- tion tests, IgA, IgM, C3–C4, RF, ANA, anti- DNA, TSH, T 4 , serum and urine immuno- fixation for monoclonal proteins, tumoral markers (carcinoembryonic antigen, ·-feto- protein, prostatic-specific antigen), VDRL, HBsAg, anti-HCV and anti-HIV antibodies, and tuberculin skin test were all normal or negative. The 24-hour proteinuria was 14 g, urinary sediment normal, urine culture neg- ative. X-ray of the lungs and ECG were nor- mal; echocardiogram: left ventricular hyper- trophy. Radiological bone examination showed bilateral, symmetric ostosclerosis and areas of medullary osteolysis in the dia- physes and metaphyses of the long tubular bones of upper and lower limbs (fig. 1); these changes are considered to be diagnostic of ECD. Abdominal ultrasound: kidneys of normal size with increased echogenicity. In the CT scan and magnetic resonance imag- ing of the abdomen and pelvis no lymph nodes or retroperitoneal mass were seen. Rectal biopsy disclosed deposition of potas- sium permanganate-sensitive amyloid, in the vessels of submucosa and in the lamina propia; these deposits stained with anti- bodies to amyloid A protein by the immuno- peroxidase method (Dako ® ). Synacthen test (cosyntropin 0.25 mg i.v.) was pathological and the serum ACTH was 89 pg/ml (normal 9–52), all of which was compatible with pri- mary adrenal insufficiency. CT of the lung, bone marrow aspirate, gastroscopy, barium enema and colonoscopy showed no signifi- cant findings. On further questioning, the patient stated that he had taken no illicit drugs, had no fever, abdominal pain, arthritis, or skin lesions; there was no family history of famil- ial Mediterranean fever or bone disease. The patient refused other diagnostic invasive procedures. Steroids were given at an initial dose of 1 mg/kg/day and colchicine 1 mg/day, which Fig. 1. Symmetric osteosclerosis and medul- lary osteolytic lesions involving the meta- physeal and diaphyseal regions of the fem- ora. Downloaded by: Lund University Libraries 130.235.66.10 - 2/12/2019 7:10:57 PM