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delta-Aminolevulinic acid dehydratase deficiency porphyria (ADP) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in a 69-year-old woman.
Kobe J Med Sci. 1995 Apr; 41(1-2):23-31.KJ

Abstract

delta-Aminolevulinic acid dehydratase deficiency porphyria (ALAD porphyria, ADP) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in a 69-year-old woman is reported. The patient was admitted to our hospital complaining of slight cough with low-grade fever, and treated with piperacillin sodium, resulting in complete resolution of the symptoms, following a diagnosis of bronchopneumonia. Thereafter, however, she began to complain of vomiting, abdominal pain, facial numbness and paresis of the extremities with gait disturbance, and became comatose with hyponatremia (serum Na concentration 119 mEq/L) in a few days. Laboratory tests revealed an antidiuretic hormone (ADH) level of 13.5 pg/mL, plasma osmolality 218 mOsm/KgH2O, urinary osmolality 429 mOsm/KgH20, urinary Na concentration > 20 mEq/L, and no abnormalities of thyroid, adrenal or renal function. Neither edema nor dehydration was evident. These data indicated the presence of SIADH. No abnormalities suggestive of malignant or infectious diseases such as lung cancer, pneumonia and Guillain-Barré syndrome were evident from laboratory and roentgenographic findings. As the cause of SIADH, therefore, porphyria was suspected. Metabolites and activities of enzymes in the heme biosynthetic pathway were examined, and very low activity of delta-aminolevulinic acid dehydratase (ALA-D) (0.14 mumol PBG/mL RBC/h) was found. The patient was neither an alcoholic nor a heavy smoker, and she had no past history of heavy metal intoxication, photosensitivity or tyrosinemia. On the basis of these data and clinical features, she was diagnosed as having ADP. We consider this to be the first case of ADP reported in Japan.

Authors+Show Affiliations

Department of Internal Medicine, Suma Red Cross Hospital, Kobe, Japan.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7490911

Citation

Muraoka, A, et al. "Delta-Aminolevulinic Acid Dehydratase Deficiency Porphyria (ADP) With Syndrome of Inappropriate Secretion of Antidiuretic Hormone (SIADH) in a 69-year-old Woman." The Kobe Journal of Medical Sciences, vol. 41, no. 1-2, 1995, pp. 23-31.
Muraoka A, Suehiro I, Fujii M, et al. Delta-Aminolevulinic acid dehydratase deficiency porphyria (ADP) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in a 69-year-old woman. Kobe J Med Sci. 1995;41(1-2):23-31.
Muraoka, A., Suehiro, I., Fujii, M., & Murakami, K. (1995). Delta-Aminolevulinic acid dehydratase deficiency porphyria (ADP) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in a 69-year-old woman. The Kobe Journal of Medical Sciences, 41(1-2), 23-31.
Muraoka A, et al. Delta-Aminolevulinic Acid Dehydratase Deficiency Porphyria (ADP) With Syndrome of Inappropriate Secretion of Antidiuretic Hormone (SIADH) in a 69-year-old Woman. Kobe J Med Sci. 1995;41(1-2):23-31. PubMed PMID: 7490911.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - delta-Aminolevulinic acid dehydratase deficiency porphyria (ADP) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in a 69-year-old woman. AU - Muraoka,A, AU - Suehiro,I, AU - Fujii,M, AU - Murakami,K, PY - 1995/4/1/pubmed PY - 1995/4/1/medline PY - 1995/4/1/entrez SP - 23 EP - 31 JF - The Kobe journal of medical sciences JO - Kobe J Med Sci VL - 41 IS - 1-2 N2 - delta-Aminolevulinic acid dehydratase deficiency porphyria (ALAD porphyria, ADP) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in a 69-year-old woman is reported. The patient was admitted to our hospital complaining of slight cough with low-grade fever, and treated with piperacillin sodium, resulting in complete resolution of the symptoms, following a diagnosis of bronchopneumonia. Thereafter, however, she began to complain of vomiting, abdominal pain, facial numbness and paresis of the extremities with gait disturbance, and became comatose with hyponatremia (serum Na concentration 119 mEq/L) in a few days. Laboratory tests revealed an antidiuretic hormone (ADH) level of 13.5 pg/mL, plasma osmolality 218 mOsm/KgH2O, urinary osmolality 429 mOsm/KgH20, urinary Na concentration > 20 mEq/L, and no abnormalities of thyroid, adrenal or renal function. Neither edema nor dehydration was evident. These data indicated the presence of SIADH. No abnormalities suggestive of malignant or infectious diseases such as lung cancer, pneumonia and Guillain-Barré syndrome were evident from laboratory and roentgenographic findings. As the cause of SIADH, therefore, porphyria was suspected. Metabolites and activities of enzymes in the heme biosynthetic pathway were examined, and very low activity of delta-aminolevulinic acid dehydratase (ALA-D) (0.14 mumol PBG/mL RBC/h) was found. The patient was neither an alcoholic nor a heavy smoker, and she had no past history of heavy metal intoxication, photosensitivity or tyrosinemia. On the basis of these data and clinical features, she was diagnosed as having ADP. We consider this to be the first case of ADP reported in Japan. SN - 0023-2513 UR - https://www.unboundmedicine.com/medline/citation/7490911/delta_Aminolevulinic_acid_dehydratase_deficiency_porphyria__ADP__with_syndrome_of_inappropriate_secretion_of_antidiuretic_hormone__SIADH__in_a_69_year_old_woman_ L2 - http://www.diseaseinfosearch.org/result/2172 DB - PRIME DP - Unbound Medicine ER -