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NDT Plus Advance Access originally published online on June 3, 2008
NDT Plus 2008 1(4):257-261; doi:10.1093/ndtplus/sfn062
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© The Author [2008]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org

Slow progression of chronic renal failure in a woman of short stature and leg deformities: what is the link?

An Vanacker1, Marc Segaert1, Johan Verbanck1, Jo Van Dorpe2, Bruce Poppe3 and Bart Maes1

1 Department of Nephrology, Heilig Hartziekenhuis Roeselare-Menen, B-8800 Roeselare
2 Department of Pathology, Heilig Hartziekenhuis Roeselare-Menen, B-8800 Roeselare
3 Center for Medical Genetics, Ghent University Hospital, B-9000 Ghent, Belgium

Correspondence: Bart Maes, MD, PhD, Heilig Hartziekenhuis Roeselare-Menen, Wilgenstraat 2, Roeselare 8800, Belgium. Tel: (32) 51 237284; Fax: (32) 51 237287; E-mail: bmaes@hhr.be

Key Words: hyperparathyroidism • nephrocalcinosis • X-linked hypophosphataemic rickets

Received for publication February 21, 2008. Accepted for publication May 10, 2008.

The first 150 words of the full text of this article appear below.


   Case report
 
A 71-year-old woman presented at the outpatient clinic for the first time in 1973 with diffuse bone pain mainly in both wrists, shoulders and the spine. Clinical examination showed limb deformities (genu varum of the left leg, genu valgum of the right leg) and short stature (142 cm). At that time, she had already experienced multiple spontaneous fractures of the right and left femur. There was no family history of bone disorders (mother and father as well as seven brothers and sisters were healthy).

Laboratory tests at that moment showed: sodium 141 mmol/L (normal range 133–145), potassium 3.9 mmol/L (3.5–5.1), chloride 104 mmol/L (95–108), bicarbonate 23 mmol/L (23–29), calcium 9.8 mg/dL (8.4–10.2), phosphate 1.7 mg/dL (2.4–4.5), serum creatinine 0.72 mg/dL and alkaline phosphatase 120 U/L (53–141). Hyperparathyroidism was excluded. Urine analysis showed a daily phosphate excretion of 597 mg (300–1300), a daily calcium excretion of 39 mg (100–250) and a . . . [Full Text of this Article]


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