Renal Tubular Dysfunction Fully Accounts for Plasma Biochemical Abnormalities in Type 1A Pseudohypoparathyroidism

Type 1A pseudohypoparathyroidism (PHP-1A) is characterized by target organ resistance to PTH. Patients can present with various dysmorphic features; however, renal failure has not been classically described. A female patient came to our attention at the age of 7 years with characteristic signs of PT...

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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 2019-03, Vol.104 (3), p.823-826
Hauptverfasser:	Labbadia, Raffaella, Bizzarri, Carla, Mucciolo, Mafalda, Di Zazzo, Giacomo, Guzzo, Isabella, Cappa, Marco, Emma, Francesco, Dello Strologo, Luca
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Alfacalcidol Calcifediol Calcium - blood Calcium phosphates Child Chromogranins - genetics Chronic kidney failure Diagnosis End-stage renal disease Female GTP-Binding Protein alpha Subunits, Gs - genetics Humans Hyperphosphatemia Hypocalcemia Hypothyroidism Kidney diseases Kidney Transplantation Kidney Tubules - physiopathology Metacarpal Parathyroid hormone Parathyroid Hormone - blood Phosphates Phosphates - blood Pseudohypoparathyroidism Pseudohypoparathyroidism - blood Pseudohypoparathyroidism - complications Pseudohypoparathyroidism - genetics Renal failure Renal function Renal Insufficiency - blood Renal Insufficiency - etiology Renal Insufficiency - physiopathology Renal Insufficiency - surgery Supplements Thyroid hormones Transplantation of organs, tissues, etc Transplants & implants Vitamin D Vitamin D - blood
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