Renal tubular dysfunction fully accounts for plasma biochemical abnormalities in Type 1A Pseudohypoparathyroidism

Raffaella Labbadia, Carla Bizzarri, Mafalda Mucciolo, Giacomo Di Zazzo, Isabella Guzzo, Marco Cappa, Francesco Emma, Luca Dello Strologo

Research output: Contribution to journalArticlepeer-review

Abstract

Context: Type 1A Pseudohypoparathyroidism (PHP-1A) is characterized by target organ resistance to parathyroid hormone (PTH). Patients can show various dysmorphic features, but renal failure is not classically described.

Case Description: A female patient came to our attention at the age of seven years with characteristic signs of PTH resistance, namely hypocalcemia, hyperphosphatemia and high serum PTH levels. She also presented hypothyroidism, early-onset obesity, short metacarpal bones and multiple subcutaneous ossifications leading to a clinical diagnosis of pseudohypoparathyroidism In addition to her genetic condition, she had bilateral renal hypodysplasia slowly progressing to end-stage kidney disease. She received a kidney transplant at the age of sixteen and after transplantation rapidly normalized calcium, phosphate and PTH levels, allowing withdrawal of vitamin D supplementation.

Conclusions: This the first report of a patient with PHP-1A undergoing kidney transplantation. Normalization of biochemical parameters after the procedure demonstrates that renal tubular resistance to PTH is sufficient to explain the calcium/phosphate abnormalities observed in PHP-1A.

Original languageEnglish
Number of pages8
JournalThe Journal of clinical endocrinology and metabolism
DOIs
Publication statusE-pub ahead of print - Nov 9 2018

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