Open AccessAn interesting case of primary hypoparathyroidism
Author(s) -
Dilip Kirpalani,
Jwalant Patel,
Hardik Shah,
Ashok Kirpalani,
Deepak Amrapurkar,
R. K. Choudhary,
A Dhurve
Publication year - 2014
Publication title -
indian journal of nephrology/indian journal of nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.317
H-Index - 24
eISSN - 1998-3662
pISSN - 0971-4065
DOI - 10.4103/0971-4065.132018
Subject(s) - medicine , hypomagnesemia , hypokalemia , hypoparathyroidism , hyperphosphatemia , asymptomatic , endocrinology , gitelman syndrome , tetany , vomiting , gastroenterology , calcium , materials science , magnesium , metallurgy
Primary hypoparathyroidism can occur due to an activating mutation of calcium sensing receptor (CaSR). Most patients remain asymptomatic and therefore not diagnosed until adulthood. We present a 38-year-old lady who had a history of muscle cramps since 8 years. She presented with vomiting, abdomen pain and body ache, showed clinical evidence of hypovolemia, severe hypocalcemia, hypokalemia, hypomagnesemia, hyperphosphatemia and metabolic alkalosis. Her 24 h urinary phosphorus was low and 24 h urinary excretion of sodium, potassium and chloride were high. Her intact parathormone was on the lower side of the normal range. She improved once we had corrected her biochemical abnormalities. By excluding acquired causes of hypoparathyroidism, we are able to conclude that this may be a case of primary hypoparathyroidism due to activating mutation of CaSR.