Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay.

Abstract

Four children (two boys and two girls) with hypoparathyroidism, renal insufficiency, and developmental delay are described. They were the products of consanguineous marriages in three related Asian families presenting over a six year period. AU figure). He was the first child of Asian parents who were first cousins. He became lethargic on the ninth day of life and investigations showed evidence of a metabolic acidosis (pH 7-18, base excess -17 mmol/l), with hypocalcaemia (1-32 mmol/l), and hyponatraemia (115 mmol/1). He was treated with sodium bicarbonate, calcium gluconate, and the vitamin D analogue alfacalcidol. Further investigations gave normal results and included an infection screen, plasma 17 hydroxyprogesterone, serum amino acid and ammonia, and urinary organic acid concentrations. He had evidence of a distal renal tubular acidosis because he was unable to achieve a urinary pH below 5 5. Over the next few months he continued to have evidence of hypocalcaemia and failed to thrive. He was reassessed at the age of 5 months. At this time his weight was 3-4 kg (2 5 kg less than the third centile), height 61 cm, and head circumference 39 cm (both less than the third centile). He was generally hypotonic with poor head control. Investigations (see table) confirmed hypocalcaemia and hyperphosphataemia with a normal magnesium (0-93 mmol/l).He had normal values for plasma albumin and alkaline phosphatase. He had evidence of renal insufficiency and a compensated metabolic acidosis. His calculated index of phosphate reabsorption (tubular maximum reabsorption of phosphate/glomerular filtration rate, TmPO4/

Multiple endocrinopathies in an infant with fatal neurodegenerative disease

“…A diagnosis has not yet been established. It is possible that MP has a more severe and extensive form of the syndrome described in Saudi, Kuwaiti, and Asian children with hypoparathyroidism [Richardson and Kirk, 1990;Sanjad et al, 1991;Shaw et al, 1991]. On the other hand, his clinical findings are remarkably similar to those found in patients with mitochondrial diseases.…”

“…Shaw et al have described another autosomal recessive form of congenital hypoparathyroidism in 4 children from an Asian kindred [Shaw et al, 1991]. This phenotype also included renal tubular acidosis, progressive renal insufficiency, severe developmental delay, failure to thrive of postnatal onset, and sensorineural deafness.…”

Autosomal dominant familial hypoparathyroidism and sensorineural deafness without renal dysplasia

“…Some of the patients developed renal insufficiency early in life. The autosomal recessive form of hypoparathyroidism with sensorineural deafness and renal tubular dysfunction was detected in two families (8,9). However, the family described in this report showed normal renal imaging and normal renal tubular function.…”

Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome

“…In our patient, no predisposing factors were found except for HDR syndrome. Although cerebral infarction was not reported in patients with partial deletion of 10p [Kato et al, 1996] or in those with idiopathic hypoparathyroidism, one of the two children with HDR syndrome described by Shaw et al [1991] had several small foci of lowdensity parenchyma in the left hemisphere that had the appearance of infarcts on cranial CT. Recurrent cerebral infarctions may be one of the clinical features in HDR syndrome.…”

“…Yumita et al [1986] described a male with hypoparathyroidism, progressive sensorineural deafness, and aplasia or hypoplasia of the right kidney. Shaw et al [1991] reported on two children with hypoparathyroidism, sensorineural deafness, and renal insufficiency who were also severely developmentally delayed and showed a failure to thrive, dying at ages 7 months and 14 months, respectively. Bilous et al [1992] described two brothers and two daughters of one of the brothers with hypoparathyroidism, sensorineural deafness, and renal dysplasia.…”