Childhood Hypercalciuric Hypercalcemia With Elevated Vitamin D and Suppressed Parathyroid Hormone: Long-Term Follow Up

Purpose: Hypercalcemia with low parathyroid hormone (PTH) level, hypercalciuria, nephrocalcinosis, or nephrolithiasis, was recently reported as caused by mutations in CYP24A1 and SLC34A genes. These encode for vitamin D-24A-hydroxylase and for the renal phosphate transporters NaPiIIa and NaPiIIc, respectively. We aimed to describe the clinical course of these monogenic disorders in patients with and without found mutations during long-term follow-up.Methods: Ten patients with hypercalcemia, hypercalciuria, elevated 1,25-(OH)2D levels and suppressed PTH were followed in our center during 1998–2019. Relevant laboratory and imaging data and results of genetic evaluation were retrieved from medical files.Results: The median age at presentation was 9.5 months (range 1 month−11 years), six were males, and the median follow-up time was 3.8 (1.1–14) years. Mutations in CYP24A1 and SLC34A3 were identified in three and one patients, respectively. Five patients presented with nephrocalcinosis, three with nephrolithiasis, and two had normal renal ultrasound. High blood calcium and 1,25-(OH)2D levels at presentation decreased during follow-up [11.1 ± 1 vs. 9.9 ± 0.5 mg/dl (p = 0.012), and 307 ± 130 vs. 209 ± 65 pmol/l (p = 0.03), respectively]; this paralleled an increase in suppressed PTH levels (5.8 ± 0.9 vs. 11.8 ± 7.3 pg/ml, p = 0.2). Substantial improvements in hypercalciuria and renal sonography findings were not observed. Two patients had impaired renal function (eGFR 84–88 ml/min/1/73 m2) at the last follow up. Interventions included appropriate diet, citrate supplementation, and thiazides.Conclusion: Despite improvement in hypercalcemia and 1,25-(OH)2D levels, not all the patients showed improvements in hypercalciuria and nephrocalcinosis. Deterioration of renal function was also observed. Long-term follow up and intervention to prevent nephrocalcinosis and nephrolithiasis are recommended in these children.

Download Full-text

Long-Term Follow-Up of Denosumab Discontinuers with Multiple Vertebral Fractures in the Real-World: A Case Series

Hormone and Metabolic Research ◽

10.1055/a-1368-4218 ◽

2021 ◽

Author(s):

Liana Tripto-Shkolnik ◽

Yair Liel ◽

Naama Yekutiel ◽

Inbal Goldshtein

Keyword(s):

Real World ◽

Vertebral Fractures ◽

Clinical Laboratory ◽

Case Series ◽

High Risk Group ◽

Imaging Data ◽

Long Term Follow Up ◽

Multiple Vertebral Fractures

AbstractDenosumab discontinuation is associated with rapid reversal of bone turnover suppression and with a considerable increase in fracture risk, including a risk for multiple vertebral fractures (MVF). Long-term follow-up of patients who sustained MVF after denosumab discontinuation has not been reported. This case-series was aimed to provide a long-term follow-up on the management and outcome of denosumab discontinuers who initially presented with multiple vertebral fractures. Denosumab discontinuers were identified from a computerized database of a large healthcare provider. Baseline and follow-up clinical, laboratory, and imaging data were obtained from the computerized database and electronic medical records. The post-denosumab discontinuers MVF patients consisted of 12 women aged 71±12. Osteoporotic fractures were prevalent before denosumab discontinuation in 6 of the patients. The majority received bisphosphonates before denosumab. MVF occurred 134±76 days after denosumab discontinuation. The patients were followed for a median of 36.5 (IQR 28.2, 42.5) months after MVF. Two patients passed-away. Two patients suffered recurrent vertebral fractures. Following MVF, patients were treated inconsistently with denosumab, teriparatide, oral, and intravenous bisphosphonates, in various sequences. Two patients underwent vertebroplasty/kyphoplasty. This long-term follow-up of real-world patients with MVF following denosumab discontinuation reveals that management is inconsistent, and recurrent fractures are not uncommon. It calls for clear management guidelines for patients with MVF after denosumab discontinuation and for special attention to this high-risk group.

Download Full-text

Renal function following acute renal failure in childhood: A long term follow-up study

Kidney International ◽

10.1038/ki.1989.11 ◽

1989 ◽

Vol 35 (1) ◽

pp. 84-89 ◽

Cited By ~ 23

Author(s):

Helen N. Georgaki-Angelaki ◽

David B. Steed ◽

Cyril Chantler ◽

George B. Haycock

Keyword(s):

Renal Failure ◽

Renal Function ◽

Acute Renal Failure ◽

Follow Up Study ◽

Long Term Follow Up

Download Full-text

Long-term follow-up of renal function in patients after surgery for obstructive uropathy

Pediatric Nephrology ◽

10.1007/s00467-007-0741-6 ◽

2008 ◽

Vol 23 (6) ◽

pp. 937-945 ◽

Cited By ~ 8

Author(s):

Daniela Miklovicova ◽

Olga Cervenova ◽

Andrea Cernianska ◽

Zuzana Jancovicova ◽

Ladislav Dedik ◽

...

Keyword(s):

Renal Function ◽

Obstructive Uropathy ◽

Long Term Follow Up

Download Full-text

A major health problem facing immigrant children: nutritional rickets

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2021-0420 ◽

2021 ◽

Vol 0 (0) ◽

Author(s):

Erdal Kurnaz ◽

Semra Çetinkaya ◽

Selin Elmaoğulları ◽

Aslıhan Araslı Yılmaz ◽

Nursel Muratoğlu Şahin ◽

...

Keyword(s):

Vitamin D ◽

Immigrant Children ◽

High Dose ◽

Pediatric Endocrinology ◽

Major Health Problem ◽

Nutritional Rickets ◽

Increased Risk ◽

Long Term Follow Up

Abstract Objectives Nutritional rickets (NR) is still an important problem and one which increasing influxes of immigrants are further exacerbating. This study evaluated cases of mostly immigrant children followed up with diagnoses of NR in our pediatric endocrinology clinic. Methods Details of 20 cases diagnosed with NR between 2017 and 2020 were retrieved from file records. Results Twenty (11 male) cases were included in the study. Three (15%) were Turkish nationals and the others (85%) were immigrants. Hypocalcemia and hypophosphatemia were detected in 17 and 13, respectively. Alkaline phosphatase (ALP) values were normal in two cases, while ALP and parathyroid hormone (PTH) values were elevated in all other cases, and PTH levels were very high (473.64 ± 197.05 pg/mL). 25-hydroxyvitamin D levels were below 20 ng/mL in all cases. Patients with NR received high-dose long-term vitamin D or stoss therapy. Six patients failed to attend long-term follow-up, while PTH and ALP levels and clinical findings improved at long-term follow-up in the other 14 cases. Conclusions The elevated PTH levels suggest only the most severe cases of NR presented to our clinic. Clinically evident NR is therefore only the tip of the iceberg, and the true burden of subclinical rickets and osteomalacia remains unidentified. Public health policies should therefore focus on universal vitamin D supplementation and adequate dietary calcium provision, their integration into child surveillance programs, adequate advice and support to ensure normal nutrition, exposure to sunlight, and informing families of the increased risk not only for resident populations but also for refugee and immigrant children.

Download Full-text

MP31-19 LONG-TERM FOLLOW-UP OF RENAL FUNCTION AND DEVELOPMENT OF CHRONIC KIDNEY DISEASE AFTER PARTIAL NEPHRECTOMY

The Journal of Urology ◽

10.1097/01.ju.0000557568.28232.a8 ◽

2019 ◽

Vol 201 (Supplement 4) ◽

Author(s):

Takashi Ikeda* ◽

Toshio Takagi ◽

Hiroki Ishihara ◽

Hironori Fukuda ◽

Kazuhiko Yoshida ◽

...

Keyword(s):

Chronic Kidney Disease ◽

Renal Function ◽

Kidney Disease ◽

Partial Nephrectomy ◽

Long Term Follow Up

Download Full-text

Postoperative Hypoparathyroidism: Presentation, Clinical Features and Long-term Follow-up from Tertiary Care Hospital

JOURNAL FOR CLINICAL AND DIAGNOSTIC RESEARCH ◽

10.7860/jcdr/2021/46621.14423 ◽

2021 ◽

Author(s):

Shrikrishna V Acharya

Keyword(s):

Vitamin D ◽

Tertiary Care ◽

Renal Ultrasound ◽

Care Hospital ◽

Clinical Complications ◽

Treatment Prevalence ◽

Postoperative Hypoparathyroidism ◽

Long Term Follow Up ◽

Considerable Morbidity

Introduction: Hypoparathyroidism is commonly seen after total thyroidectomy. Though most of the time it is transient in nature but permanent decrease in function of the parathyroid function is also possible. Aim: A retrospective analysis of clinical presentation, treatment, prevalence of complications of hypoparathyroidism and its treatment with active vitamin D analogues was conducted. Materials and Methods: A retrospective cohort study followed by location and duration of study of all patients who developed Permanent Hypoparathyroidism (PH) and who were regular in follow-up for at least three years. Any patient with intact Parathyroid Hormone (iPTH) levels <13 pg/mL and was on replacement therapy with calcium and/or vitamin D for at least one year after surgery is labelled as PH. Data of their treatment, serum calcium, phosphorous, creatinine, urine calcium/creatinine ratio and renal ultrasound was recorded. Data was represented as percentage, mean and standard deviation. Statistical analysis was conducted using SPSS version 19. Results: Out of the 23 patients enrolled, three were male and 20 were female with a mean age of 41.2±15.2 years. The mean duration of follow-up was 48±28 months. Clinical complications in 12 patients were observed. Two patients developed renal colic due to renal stone on follow-up. None of the patients developed renal failure. Conclusion: PH causes considerable morbidity and economic burden to family due to its lifelong treatment and monitoring. It requires regular follow-up and monitoring to prevent complications of disease as well as its treatment with active calcium salts. Around 50% of the patients suffered few relevant clinical events requiring hospitalisation.

Download Full-text