Fumitoshi Satoh,Ryo Morimoto,Yoshitsugu Iwakura et al.
Fumitoshi Satoh et al.
Primary aldosteronism (PA) is the most common cause of secondary hypertension, accounting for 10% of all hypertension. Far from being benign, hypertension due to PA is associated with high cardiovascular morbidity and mortality. However, PA...
Richard J Auchus
Richard J Auchus
Primary aldosteronism is unquestionably the most common secondary cause of hypertension, and effective approaches to diagnosis and targeted treatments exist. Even the most conservative estimates of the prevalence of primary aldosteronism, h...
Paolo Mulatero,Silvia Monticone,Franco Veglio
Paolo Mulatero
Primary aldosteronism is the most common form of secondary hypertension. The detection of primary aldosteronism is of particular importance, not only because it provides an opportunity for a targeted treatment (surgical for APA and medical ...
Gulay Karaguzel,Michael F Holick
Gulay Karaguzel
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. There are many causes f...
Dale W Stovall
Dale W Stovall
Erik Fink Eriksen
Erik Fink Eriksen
Bone remodeling is a tightly regulated process securing repair of microdamage (targeted remodeling) and replacement of old bone with new bone through sequential osteoclastic resorption and osteoblastic bone formation. The rate of remodeling...
Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene [0.03%]
胰岛素基因突变所致新生儿糖尿病的临床和分子遗传学特征
Julie Støy,Donald F Steiner,Soo-Young Park et al.
Julie Støy et al.
Over the last decade our insight into the causes of neonatal diabetes has greatly expanded. Neonatal diabetes was once considered a variant of type 1 diabetes that presented early in life. Recent advances in our understanding of this disord...
Andrew A Palladino,Charles A Stanley
Andrew A Palladino
The hyperinsulinism/hyperammonemia (HI/HA) syndrome is the second most common form of congenital hyperinsulinism (HI). Children affected by this syndrome have both fasting and protein sensitive hypoglycemia combined with persistently elevat...
Ritika R Kapoor,Amanda Heslegrave,Khalid Hussain
Ritika R Kapoor
Mutations in the HADH and HNF4A genes are rare causes of diazoxide responsive congenital hyperinsulinism (CHI). This chapter details the phenotype known to be associated with mutations in these genes. Additionally, the authors give a brief ...
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11 [0.03%]
ABCC8和KCNJ11基因活化突变所致永久性新生儿糖尿病
Emma L Edghill,Sarah E Flanagan,Sian Ellard
Emma L Edghill
The ATP-sensitive potassium (K(ATP)) channel is composed of two subunits SUR1 and Kir6.2. The channel is key for glucose stimulated insulin release from the pancreatic beta cell. Activating mutations have been identified in the genes encodi...