Renal Failure and Atypical Genital Appearance in a Critically Ill Infant.

Autor:	Chainani, Sanjay, Sabnani, Reshma, Horgan, Megan, Gupta, Neena
Předmět:	KIDNEY failure CONTINUOUS positive airway pressure VENTILATION CONTRACTURE (Pathology) DRINKING (Physiology) METABOLIC disorders PROGESTERONE DIARRHEA PERITONEAL dialysis CRITICALLY ill PATIENTS CREATININE DIFFERENTIAL diagnosis DENYS-Drash syndrome GENITAL diseases HYPERKALEMIA HYPERTENSION ACUTE kidney failure BLOOD protein disorders HYDROCORTISONE DISCHARGE planning HYPOSPADIAS MECONIUM APGAR score OXIDOREDUCTASES URINALYSIS AMNIOTIC liquid RESPIRATORY distress syndrome HYPONATREMIA ALBUMINS JOINT instability KIDNEYS ECHOCARDIOGRAPHY DIETARY supplements HYPOTENSION GENOMES SEQUENCE analysis CHILDREN
Zdroj:	Clinical Pediatrics; Sep2024, Vol. 63 Issue 8, p1160-1162, 3p
Abstrakt:	The article presents a case study of a critically ill infant with atypical genital appearance and progressive renal failure, ultimately diagnosed with Denys-Drash syndrome (DDS). Topics discussed include the differential diagnosis of congenital adrenal hyperplasia (CAH) versus DDS, the challenges in newborn screening for CAH, and the implications of timely diagnosis and management of rare genetic disorders.
Databáze:	Complementary Index
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