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J Clin Endocrinol Metab. 2019 Mar 1;104(3):823-826. doi: 10.1210/jc.2018-01193.

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

Author information

1
Nephrology Unit, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy.
2
Endocrinology Unit, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy.
3
Medical Genetics Laboratory, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy.

Abstract

Context:

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.

Case Description:

A female patient came to our attention at the age of 7 years with characteristic signs of PTH resistance (i.e., hypocalcemia, hyperphosphatemia, and high serum PTH levels). She also presented with 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 that was slowly progressing to end-stage kidney disease. She received a kidney transplant at the age of 16 years and, after transplantation, experienced rapidly normalized calcium, phosphate, and PTH levels, allowing f withdrawal of vitamin D supplementation.

Conclusions:

To the best of our knowledge, ours is the first report of a patient with PHP-1A undergoing kidney transplantation. Normalization of biochemical parameters after the procedure demonstrated that renal tubular resistance to PTH is sufficient to explain the calcium/phosphate abnormalities observed in PHP-1A.

PMID:
30418563
DOI:
10.1210/jc.2018-01193

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