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Nephrogenic Fibrosing Dermopathy and Alpha‐1 Antitrypsin Deficiency: A Case Report of a Hemodialysis Dependent Man
Author(s) -
Arndt F., Haqqie,
Elwell S., R.
Publication year - 2003
Publication title -
hemodialysis international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.658
H-Index - 47
eISSN - 1542-4758
pISSN - 1492-7535
DOI - 10.1046/j.1492-7535.2003.01233.x
Subject(s) - medicine , hemodialysis , liver transplantation , transplantation , peritoneal dialysis , surgery , dialysis , liver disease , pediatrics
Nephrogenic fibrosing dermopathy (NFD) is a rare newly described scleromyxedema‐like cutaneous disease that occurs in renal failure patients. Since the year 2000, NFD has been identified in patients on hemodialysis, peritoneal dialysis, renal transplantation and no dialysis. Objective: To discuss the clinical presentation of a case of NFD, which compounded the course of alpha‐1 antitrypsin (A1AT) deficiency. This 23‐year‐old man on hemodialysis thrice weekly had rapid deterioration of functional abilities. The patient was previously ambulatory, but he became contracted and bedridden over several weeks. He had a brawny thickening of his skin over his arms, legs and chest. He complained of intolerable burning joint pain during hemodialysis. After a failed trial of steroid therapy NFD was diagnosed by biopsy. He subsequently became hypercalcemic secondary to immobilization. His existing A1AT deficiency presented as liver failure, hyperammonemia and encephalopathy. He was cachetic and his nutritional status was difficult to manage due to medically induced diarrhea, poor appetite, confused mental state and infected total parenteral nutrition lines. A dual liver‐kidney transplant was considered, but several factors prevented surgery including: poor nutritional status, scant data to suggest resolution of NFD after transplantation and lack of profound liver failure. His nutritional status, contractures, mental status and liver function never recovered, and six months after diagnosis of NFD the patient died. Conclusions: This case of NFD resulted in a rapid decline of function from ambulatory young man to contracted and bedridden invalid. The NFD did not respond to therapy and compounded the course of A1AT. NFD contributed to hypercalcemia of immobility, intolerance of hemodialysis and cachexia.