Rare case of nephrocalcinosis in a 14-year-old girl: Questions

Abstract

A 14-year-old Caucasian girl with a history of primary hypoparathyroidism and unstable calcium and phosphorus levels and on ongoing treatment was admitted to the Department of Pediatric Nephrology because of the onset of nephrocalcinosis and difficulties achieving normocalcemia. Coexistence of hypoparathyroidism, oral candidiasis, dental enamel hypoplasia, and subclinical Hashimoto's disease was strongly suggestive for autoimmune polyglandular syndrome (APS) type I. One of the clinical implications of this diagnosis is the high probability of future occurrence of adrenal insufficiency and hence the importance of maintaining a high level of suspicion in case of the onset of symptoms like weakness, fainting, hypotonia, or hyperkaliemia. Addison's disease would, in fact, be quite challenging for the future management of this patient.This clinical quiz highlighted the importance of careful evaluation of all multiorgan symptoms occurring in a patient to prevent further complications.Keywords Nephrocalcinosis . Autoimmune polyendocrine syndrome type 1 . Hypoparathyroidism . Children Case presentationA 14-year-old Caucasian girl with a history of primary hypoparathyroidism and unstable calcium and phosphorus levels and on ongoing treatment was admitted to the Department of Pediatric Nephrology because of the onset of nephrocalcinosis and difficulties achieving normocalcemia. The obstetric, neonatal, and developmental history was unremarkable. The child was born at full term after a normal seventh pregnancy and fifth delivery, with a birth weight of 3150 g and an Apgar score of 10. An adenoidectomy was performed at the age of 6 years. The first symptoms of the disease appeared at the age of 9 years and consisted of several episodes of syncope and seizures. At presentation, apart from a white-coated tongue, dental caries, and enamel hypoplasia, the clinical, neurological, cardiovascular, and ophthalmic examinations were norm a l . L a b o r a t o r y t e s t s r e v e a l e d h y p o c a l c e m i a , hyperphosphatemia, and low serum parathyroid hormone (sPTH). Computed tomography (CT) and magnetic resonance (MR) imaging revealed bilateral calcifications in the basal ganglia and the frontal lobes (Fig. 1). The thyroid gland was slightly heterogeneous on ultrasound, and antithyroid peroxidase (anti-TPO) antibodies were present, without any other clinical or biochemical features of hypothyreosis. A treatment of primary hypoparathyroidism based on calcium supplementation and 1-α-hydroxycholecalciferol administration was prescribed. During a period of 3 years (2011)(2012)(2013)(2014), the dosage had to be progressively increased due to persisting hypocalcemia, to a maximum of 4.0 g of calcium carbonate and 1.75 μg of 1-α-hydroxycholecalciferol daily. In January 2015, the patient was hospitalized because of dyspnea, generalized weakness, polydipsia, nausea, and tachycardia. She was severely hypercalcemic at that moment but recovered rapidly after intensive fluid therapy, loop diuretics, and temporary withdrawal of th...

Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic Review

“…Table 2 illustrates study characteristics for Ns-HypoPT studies (Humphreys, 1939; Hansted and Holst, 1952; Hinrichs, 1956; Thew and Goulston, 1962; Pisanty, 1966; Sjöberg, 1966; Greenberg et al, 1969; Hermans et al, 1969; Moshkowitz et al, 1969; Riley, 1969; Nally, 1970; Frensilli et al, 1971; Lovestedt, 1971; Assif, 1977; Pisanty and Garfunkel, 1977; Myllärniemi and Perheentupa, 1978; Lindeberg, 1979; Goepferd and Flaitz, 1981; Illum et al, 1981; Jensen et al, 1981; Nikiforuk and Fraser, 1981; Børglum Jensen et al, 1983; Harrell, 1983; Ingemarsson, 1984; Lyles et al, 1985; de Carvalho et al, 1986; Porter and Scully, 1986; Ahonen et al, 1990; Porter et al, 1992, 1995; Walls and Soames, 1993; Hershkovitz et al, 1995; Lukinmaa et al, 1996; Firth et al, 1997; Jaquez et al, 1997; Perniola et al, 1998; Fukui et al, 2000; Winer and Merke, 2000; Klingberg et al, 2002, 2005, 2007; Al-Malik, 2004; López-Jornet et al, 2005; Oberoi and Vargervik, 2005; Yang et al, 2005; da Silva Dalben et al, 2008; McGovern et al, 2008; Kelly et al, 2009; Pavlic and Waltimo-Siren, 2009; Toka et al, 2010; Wasersprung et al, 2010; Heliövaara et al, 2011; Kollios et al, 2011; Oberoi et al, 2011; Nordgarden et al, 2012; Ponranjini et al, 2012; El Batawi, 2013; Kamarthi et al, 2013; Nortjé, 2013; Ali et al, 2014; Srirangarajan et al, 2014; Laccetta et al, 2015; Matthews-Brzozowska et al, 2015; Bruserud et al, 2016; Ferre et al, 2016; Bjanid et al, 2017; Lewyllie et al, 2017; Mohsenipour et al, 2017) with subgroups A–E corresponding to the classifi...…”