Peri-kidney transplant management in autosomal dominant hypocalcaemia type 1

Area of Science:

• Nephrology
• Endocrinology
• Genetics

Background:

• Autosomal dominant hypocalcaemia type 1 (ADH1) is a rare genetic disorder.
• Altered calcium metabolism in ADH1 can cause nephrocalcinosis and chronic kidney disease.
• Kidney transplantation is a potential treatment for end-stage renal disease in ADH1 patients.

Purpose of the Study:

• To report the first case of a child with ADH1 due to a specific genetic variant (c.2528C>A; p.Ala843Glu).
• To describe the successful kidney transplantation of an 11-year-old child with ADH1 without simultaneous parathyroid gland transplant.
• To outline the management strategy for maintaining calcium homeostasis post-transplant.

Main Methods:

• Genetic sequencing to identify the causative variant in ADH1.
• Surgical procedure for kidney transplantation without parathyroid autotransplantation.
• Long-term monitoring of calcium levels, renal function, and related biochemical parameters post-transplant.

Main Results:

• Successful kidney transplantation in an 11-year-old patient with ADH1 and end-stage renal disease.
• The patient maintained stable calcium homeostasis over a 4-year post-transplant period without parathyroid gland transplantation.
• The genetic variant c.2528C>A; p.Ala843Glu was identified as the cause of ADH1 in this patient.

Conclusions:

• Kidney transplantation without simultaneous parathyroid gland transplant can be a viable option for managing ADH1.
• Careful post-transplant management is crucial for maintaining calcium homeostasis in these patients.
• This case highlights the importance of genetic diagnosis and tailored management strategies for rare kidney diseases like ADH1.