A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney

Journal of Pediatric Endocrinology and Metabolism

Volumn 25, Issue 5-6, 2012, Pages 587-590

  Abe, Yuki ^a   Sato, Takashi ^a   Takagi, Masaki ^b   Watanabe, Toru ^a   Nagayama, Yoshihisa ^a   Hasegawa, Tomonobu ^b   Abe, Tokinari ^a  

^a NIIGATA CITY GENERAL HOSPITAL   (Japan)

^b KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Insulin receptor; Insulin like growth factor 1; Medullary sponge kidney; Rabson Mendenhall syndrome; Tyrosine kinase domain

Indexed keywords

INSULIN RECEPTOR; POTASSIUM CHLORIDE; PROTEIN TYROSINE KINASE; RECOMBINANT SOMATOMEDIN C; SOMATOMEDIN C; SPIRONOLACTONE;

AMINO ACID SUBSTITUTION; ARTICLE; BARTTER SYNDROME; CASE REPORT; CATALYSIS; CHROMOSOME ABERRATION; DRUG DOSE INCREASE; DRUG MEGADOSE; ECHOGRAPHY; GENE MUTATION; GENETIC DISORDER; GLUCOSE BLOOD LEVEL; HEMATURIA; HUMAN; HYPOKALEMIA; INFANT; INTRAUTERINE GROWTH RETARDATION; INTRAVENOUS PYELOGRAPHY; JAPANESE; KIDNEY CALCIFICATION; MALE; MEDULLARY SPONGE KIDNEY; NON INSULIN DEPENDENT DIABETES MELLITUS; ORAL GLUCOSE TOLERANCE TEST; PROTEIN DOMAIN; PROVOCATION TEST; RABSON MENDENHALL SYNDROME; RADIOGRAPHY; SLEEP DISORDERED BREATHING; STOMACH DISTENSION; TONSIL DISEASE; CHEMISTRY; GENETICS; LEPRECHAUNISM; NEWBORN; PROTEIN TERTIARY STRUCTURE;

DONOHUE SYNDROME; HUMANS; INFANT, NEWBORN; MALE; MEDULLARY SPONGE KIDNEY; PROTEIN STRUCTURE, TERTIARY; PROTEIN-TYROSINE KINASES; RECEPTOR, INSULIN;

EID: 84865643119     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/jpem-2011-0473     Document Type: Article

References (6)

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