Presentation
Lung disease, if present, can cause mortality in a subgroup of patients. The documents contained in this web site are presented for information purposes only. [orpha.net]
Urogenital
- Hematuria
FA + DOLOR LUMBAR + HEMATURIA + AUMENTO LDH INFARTO - TC HELICOIDAL – FIBRINOLISIS - TROMBECTOMÍA ANTECEDENTES FAMILIARES + ANEMIA + ICTERICIA + HEMATURIA DREPANOCITOSIS – ELECTROFORESIS - HIDROXIUREA FIEBRE ALTA + ESCALOFRÍOS + ICTERICIA + HIPOTENSIÓN [hugepdf.com]
Workup
Microbiology
- Candida
DE CD4 ENDOCARDITIS CON EMBOLIA PULMONAR CUSHING MENOS ELEVACION DE ACTH SUPRARRENAL BIOPSIA RENAL NORMAL MENOS FUSION PODOCITOS SNLM ARTRITIS POR COCO GRAM NEGATIVO GONOCOCO HEMATEMESIS POR UN HELMINTO ESQUISTOSOMA HEPATOESPLENOMEGALIA POR UN HONGO CANDIDA [hugepdf.com]
Treatment
Management and treatment Treatment of congenital hypothyroidism is based on life-long levothyroxin substitution according to international guidelines (starting dose 10-15 mcg/kg/day). [orpha.net]
Histologic confirmation is important for treatment and prognosis determination. [semanticscholar.org]
Prognosis
Prognosis Prognosis varies considerably depending on the severity of symptoms. BHC causes life-long morbidity of varying degrees. Lung disease, if present, can cause mortality in a subgroup of patients. [orpha.net]
Histologic confirmation is important for treatment and prognosis determination. [semanticscholar.org]
Etiology
Etiology Brain-lung-thyroid syndrome is caused by mutations in the thyroid transcription factor 1 gene (NKX2-1/TITF1; 14q13.3). [orpha.net]
Epidemiology
Summary Epidemiology Prevalence is unknown but to date about 50 cases have been reported in the literature. [orpha.net]