Werner syndrome associated with renal involvement.

W syndrome (WS) is an autosomal recessive disease, which is characterized by premature aging, short stature, cataract, dermal atrophy and ulcers, turning white early on hairs, alopecia, vascular calcification, diabetes mellitus, and osteoporosis.1,2 Kidney involvement is rarely seen in WS.3,4 We report a case of WS associated with end stage renal failure without any risk factor. A 29-year-old male patient with no previous complaints, was admitted to our clinic complaining of left lumbar pain, oliguria, and an ulcer on the second finger of the left hand. His parents were not consanguineous, and he had healthy siblings. His physical examination revealed conjunctival pallor, bird-like face, squeaky voice, short stature (150 cms, below 3%), not well-proportioned diffused dermal atrophy for his age, whitening on hair and alopecia, muscular atrophy especially on arms, and dermal changes on hands similar to scleroderma. He had an ulcer on the second finger of his left hand, and other systemic examinations were found normal. His blood pressure was 130/80 mm Hg and pulse rate was rhythmic and 76/minute. His laboratory findings were as follows: hemoglobin 11 gr/dl, hematocrit 33%, mean corpuscular volume 90 fl, leucocyte 6700/ml, neutrophil 4400/ml, lymphocyte 1600/ml, and thrombocyte 160000/ml. The serum biochemical analyses were as follows: glucose 90 mg/dl, blood urea nitrogen 64 mg/dl, creatinine 4.6 mg/dl, uric acid 6.6 mg/dl, sodium 125 mmol/lt, potassium 4.8 mg/lt, chlorine 80 mmol/lt, calcium 8.6 mg/dl, phosphor 3.9 mg/dl, lactate dehydrogenase 335 U/lt (normal: <225 U/lt), total protein 6.4 gr/dl, albumin 3.4 gr/dl, total cholesterol 140 mg/dl, low density lipoprotein cholesterol 80 mg/dl, triglyceride 107 mg/dl. The serum thyroid stimulating hormone, luteinizing hormone, follicle stimulating hormone, and testosterone levels were found normal. The serum parathormone level was 245 pg/ml (normal:15-65 pg/ml). His urine analysis showed 1(+) proteinuria, and proteinuria was 1.25 gr/day on Esbach test. Urine sodium was found approximately 19 mmol/lt. His electrocardiographic and echocardiographic investigations were normal. Anticardiolipin IgG and IgM antibodies, antinuclear antibody, anti-neutrophil cytoplasmic antibody, and lupus anticoagulant factor analyses were found negatively. Factor V Leiden mutation could not be found. The glomerular filtration rate was calculated as 20 ml/minute by the Cockroft-Gault formula. Both kidney dimensions were found bilaterally smaller than normal on abdominal ultrasonography. A cataract could not be found on eye examination. Increased fragility could not be found on chromosome analysis. He was diagnosed as “Possible Werner syndrome’’ by Nakura et al criteria,1 which was developed for this syndrome. Werner syndrome was diagnosed by 4 major findings, such as, characteristic dermal changes, short stature, turning white early on hair, alopecia, bird-like face, and squeaky voice. For his treatment, renal transplantation was performed. Werner syndrome is a rarely seen disease, which follows as an autosomal recessive pattern. Premature aging in WS occurs during the pre-adolescent period, and patients are usually lost in 45-50 years of age by causes such as, myocardial infarction, cerebrovascular accidents, and cancer. These are caused by atherosclerosis, which is usually associated with this syndrome. Mutation of the Werner gene may be found by sequence analysis in WS. However, diagnostic genetic test has not been suggested. Increased chromosomal aberrations after exposure to clastogens, which are not diagnostic, may be found. According to physical examination findings, WS is diagnosed by Nakura et al1 diagnostic criteria, which are classified in 3 categories such as definite, probable, and possible diagnosis. According to criteria of Nakura et al,1 the present case was in accordance with possible diagnosis of WS. End stage renal failure is rarely seen in WS.3,4 Kawamura et al4 reported a case of WS who developed end stage renal failure 17 years later. Hypertensive glomerular nephrosclerosis was found on his renal biopsy. Therefore, hypertension was considered responsible for renal failure. According to the literature review, Haddad et al5 reported a case of WS who had renal failure due to urologic disease. Nishihara et al3 reported a case of WS who was diagnosed at 51 years of age and developed diabetes mellitus and nephrotic proteinuria. Diabetes mellitus was not considered as the cause of renal failure by reason of having no diabetic retinopathy, and the finding of bilaterally small kidney dimensions in this patient. Our patient Brief Communication