The most common clinical finding was nephrocalcinosis
and/or nephrolithiasis (48.5%).
Acid-base balance persisted normal, whereas an abdominal ultrasound showed a mild nephrocalcinosis
and a gallbladder stone of 2.7 mm.
The infant also received an ultrasound that was consistent with neonatal nephrocalcinosis
likely secondary to longstanding intrauterine hypercalcemia that may take months or years to resolve.
It has been determined that hypercalciuria and nephrocalcinosis
are found in patients with insulin receptor gene mutations (2, 8).
The usual indications are calculus disease, chronic infections, obstruction, trauma, dysplastic / atrophic kidney or renovascular hypertension due to the renal artery stenosis or severe unilateral parenchymal damage from nephrocalcinosis
, pyelonephritis, reflux or congenital dysplasia.2 Nowadays laparoscopic nephrectomy has replaced the open procedures, especially in the developed world.3,4 But in a developing country like ours, in many centres, most of the nephrectomies are still being performed by open surgical techniques.
can complicate high calcium levels and is detected by abdominal ultrasonography.
The majority of patients with Type 1 PH present with recurrent kidney stones and/or nephrocalcinosis
, although onset of symptoms related to stone formation may occur at any age (Cochat et al., 2012; van der Hoeven et al., 2012).
Rarer manifestations include progression to chronic kidney disease (CKD) and parenchymal disease including amyloidosis, diabetic nephropathy, nephrocalcinosis
, diffuse and nodular glomerulosclerosis, and calcineurin inhibitor toxicity in lung transplant patients .
Abdominal ultrasound showed areas of bilateral medullary nephrocalcinosis
. Thyroid ultrasound showed a colloid cyst; the parathyroid glands were not visualized.
She has a solitary ectopic kidney with nephrocalcinosis
and chronic renal failure (Figure 2).
The differential diagnosis for RTA in a patient with no prior history of kidney disease includes medications, autoimmune disease particularly Sjogren syndrome or RA, kidney transplantation, nephrocalcinosis
, medullary sponge kidney, chronic obstructive uropathy, cirrhosis, and sickle cell anemia .