title: Pompe disease with heterogeneous presentations within a family.
abstract: Pompe disease is an acid maltase deficiency being part of glycogen storage diseases that affects all age groups. In both childhood and adult forms, the classic clinical picture is that of a progressive myopathy. Respiratory muscle involvement is common, may occur early in the course of the disease, and is the most frequent cause of mortality from acid maltase deficiency. Its association with rhabdomyolysis is rare and with a fatal prognosis. We describe the cases of a family with Pompe disease with a clinical spectrum extending throughout different ages of onset, degrees of organ involvement, and rates of progression. The twin patients with adult form of Pompe disease presented episodes of acute renal failure and respiratory insufficiency with a good outcome.
authors: Service of Nephrology, UHC "Mother Teresa", Tirana, Albania. m_barbullushi@yahoo.com
authors: Myftar
authors: M
authors: Barbullushi
authors: Service of Nephrology, UHC "Mother Teresa", Tirana, Albania.
authors: Alma
authors: A
authors: Idrizi
authors: Service of Nephrology, UHC "Mother Teresa", Tirana, Albania.
authors: Eriola
authors: E
authors: Bolleku
authors: Service of Biomolecular Genetic, UHC "Mother Teresa", Tirana, Albania.
authors: Anila
authors: A
authors: Laku
authors: Service of Infectious Diseases, UHC "Mother Teresa", Tirana, Albania.
authors: Arben
authors: A
authors: Pilaca
mesh_terms: D058186:Acute Kidney Injury / Q000209:etiology*; D000328:Adult; D004200:Diseases in Twins; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000201:enzymology; D012131:Respiratory Insufficiency / Q000209:etiology*; D055815:Young Adult